When Parents Are at Fault: Development and Validation of the Parental Guilt and Shame Proneness Scale.

Research has linked individuals' dispositional guilt and shame to their interpersonal processes. Although caregivers' guilt and shame proneness in the parenting context likely have important implications for their mental health and parenting, there is a lack of validated measures for such dispositions. In three studies with Chinese parents, we developed and validated the Parental Guilt and Shame Proneness scale (PGASP), which was based on the Guilt and Shame Proneness scale (GASP). The PGASP comprises two guilt subscales-negative behavior-evaluations (guilt-NBE) and repair action tendencies (guilt-repair)-and two shame subscales-negative self-evaluations (shame-NSE) and withdrawal action tendencies (shame-withdraw). Study 1 (N = 604) provided support for the four-factor structure of the PGASP, which was replicated in Study 2 (N = 451). The concurrent validity of the PGASP was examined in Study 2 and Study 3 (N = 455). The two guilt subscales were associated with better mental health and more positive parenting, whereas parents' shame-withdraw exhibited the opposite pattern; weak or no relations were found for shame-NSE. Findings highlight the need to differentiate between parents' shame-NSE and shame-withdraw. PGASP may be a useful tool for identifying parents at risk of engaging in negative parenting.

Tumor-derived small extracellular vesicles promote breast cancer progression by upregulating PD-L1 expression in macrophages.

BACKGROUND: The metastasis of breast cancer (BC) is a complex multi-step pathological process, strictly dependent on the intrinsic characteristics of BC cells and promoted by a predisposing microenvironment. Although immunotherapy has made important progress in metastasis BC, the heterogeneity of PD-L1 in tumor associated macrophages (TAMs) in BC and the underlying mechanisms in the metastasis development of BC are still not completely elucidated. Small extracellular vesicles (sEVs) represent essential interaction mediators between BC cells and TAMs. It is worth noting to explore the underlying mechanisms typical of sEVs and their role in the metastasis development of BC. METHODS: The structure of sEVs was identified by TEM, while the particle size and amounts of sEVs were detected by BCA and NTA analysis. The specific PD-L1 + CD163 + TAM subpopulation in metastasis BC was identified by scRNA-seq data of GEO datasets and verified by IHC and IF. The function of TAMs and sEVs in metastasis BC was explored by RT-qPCR, WB, IF, flow cytometry and in vivo experiment. The expression profiles of plasma sEVs-miRNA in relation to BC metastasis was analyzed using next-generation sequencing. Further detailed mechanisms of sEVs in the metastasis development of BC were explored by bioinformatics analysis, RT-qPCR, WB and luciferase reporter assay. RESULTS: In this study, we identified that the immunosuppressive molecule PD-L1 was more abundant in TAMs than in BC cells, and a specific PD-L1 + CD163 + TAM subpopulation was found to be associated with metastasis BC. Additionally, we found that BC cells-derived sEVs can upregulate the PD-L1 expression and induce the M2 polarization, enhancing the metastasis development both in vitro and in vivo. Also, Clinical data showed that sEV-miR-106b-5p and sEV-miR-18a-5p was in relation to BC metastasis development and poor prognosis of BC patients. Further mechanistic experiments revealed that BC-derived sEV-miR-106b-5p and sEV-miR-18a-5p could synergistically promoted the PD-L1 expression in M2 TAMs by modulating the PTEN/AKT and PIAS3/STAT3 pathways, resulting in the enhancement of the BC cells invasion and metastasis. CONCLUSIONS: Our study demonstrated that BC-derived sEVs can induce metastasis in BC through miR-106b-5p/PTEN/AKT/PD-L1 and miR-18a-5p/PIAS3/STAT3/PD-L1 pathways in TAMs. Therefore, the inhibition of these specific interactions of signaling pathways would represent a promising target for future therapeutic strategies for treatment of BC.

CBX3 promotes breast cancer progression and high level of CBX3 predicts poor prognosis in patients.

Breast cancer is one of the leading cancer deaths around the world. Targeted drugs have greatly increased the survival rate of breast cancer patients in recent years. But in some patients, the current regimen is still ineffective. Therefore, more therapeutic targets for treating breast cancer are demanding. The core heterochromatin-related genes of breast cancer were identified by utilizing prognostic survival analysis and multivariate Cox hazard proportional regression analysis. Both breast cancer and adjacent normal tissue were collected and analyzed with western blot and immunohistochemistry. Colony formation assay, CCK-8 assay, and EdU assay were used to measure the effect of CBX3 on breast cancer cell growth, wound-healing assay and Transwell assay were used to analyze the effect of CBX3 on breast cancer cell migration and invasion. Flow cytometry assay and western blot were used to study the molecular mechanism of CBX3 in breast cancer. High expression of heterochromatin-related proteins CBX3, H2AFY, and SULF1 showed a poor prognosis in patients in both TCGA dataset and GEO datasets. Western blot demonstrated that the expression level of CBX3 was significantly higher in breast cancer than that in adjacent normal tissues. Colony formation assay, CCK-8 assay, and EdU assay showed that the knockdown of CBX3 could significantly inhibit breast cancer cell growth, and the overexpression of CBX3 could promote the growth of breast cancer cells. Transwell assay and wound healing assay showed that knockdown of CBX3 inhibited breast cancer cell migration and invasion, and the overexpression of CBX3 promoted breast cancer cell migration and invasion. Western blot showed that CBX3 might promote breast cancer cell proliferation, invasion, and migration in breast cancer by modulating the ERK1/2 signaling pathway and epithelial-mesenchymal transition (EMT)-related genes. CBX3 was a biomarker of poor prognosis in breast cancer patients. CBX3 promoted the proliferation of breast cancer cells through the ERK signaling pathway, and migration and invasion of breast cancer cells through EMT-related genes. The CBX3/p-ERK1/2 signaling axis might provide a new therapeutic method against breast cancer.

My child and I: self- and child-reference effects among parents with self-worth contingent on children's performance.

Research shows that parents' self-worth may be contingent on their children's performance, with implications for their interactions with children. This study examined whether such child-based worth is manifested in parents' recognition memory. Parents of school-age children in China (N = 527) reported on their child-based worth and completed a recognition memory task involving evaluative trait adjectives encoded in three conditions: self-reference, child-reference, and semantic processing. The more parents had child-based worth, the more they exhibited a child-reference effect - superior recognition memory of evaluative trait adjectives encoded with reference to the child rather than semantically. Parents exhibited the classic self-reference effect in comparisons of recognition memory between the self-reference and semantic processing conditions, but this effect was not evidenced among parents high in child-based worth. Only parents low in child-based worth exhibited the self-reference effect in comparisons between the self-reference and child-reference conditions. Findings suggest that when parents hinge their self-worth on children's performance, evaluative information related to children may be an elaborate structure in memory.

Potential values of circulating tumor cell for detection of recurrence in patients of thyroid cancer: a diagnostic meta-analysis.

BACKGROUND: Several studies have reported that circulating tumor cells (CTCs) are a promising marker for the diagnosis of thyroid cancer (TC) with recurrence or distant metastasis (DMs). However, some studies emerged with conflicting results. Therefore, we provide a meta-analysis to evaluate the diagnostic performance of CTC for detection of recurrence in patients of TC. METHODS: We searched PubMed, Web of Science, Cochrane library with the keywords "thyroid cancer" and "circulating tumor cells". Data extraction and risk of bias assessment were performed independently by two reviewers. The summary receiver operating characteristic curve (SROC) and other parameters were adopted to summarize the overall test performance. The sensitivity of CTCs in the detection of recurrent TC was reviewed. All analyses were performed by STATA 12.0 and Meta-disc software. RESULTS: For CTCs expressing epithelial cell adhesion molecule (EpCAM), seven studies were included in our meta-analysis. Pooled sensitivity, specificity, and diagnostic odds ratio were 0.71 (95% CI: 0.63-0.78), 0.89 (95% CI: 0.84-0.94), and 26.75 (95% CI: 9.11-78.53); 0.78 (95% CI: 0.65-0.89), 0.88 (95% CI: 0.76-0.96), and 40.01 (95% CI: 10.49-152.63) for CTCs expressing thyroid stimulating hormone receptor (TSHR). The area under the SROC for EpCAM and TSHR were both 0.91. CONCLUSION: CTC was a reliable marker for the diagnosis of TC patients with recurrence and DMs, and the sensitivity of CTCs expressing TSHR was higher than that of EpCAM. Additional research is warranted in order to establish uniformity in international guidelines, make up the drawbacks of conventional diagnostic methods and to prevent futile surgery.

Endoplasmic reticulum stress targeted therapy for breast cancer.

Recurrence, metastasis, and drug resistance are still big challenges in breast cancer therapy. Internal and external stresses have been proven to substantially facilitate breast cancer progression through molecular and systemic mechanisms. For example, endoplasmic reticulum stress (ERS) results in activation of the unfolded protein response (UPR), which are considered an important cellular stress response. More and more reports indicate its key role in protein homeostasis and other diverse functions involved in the process of breast cancer progression. Therefore, therapies targeting the activation of ERS and its downstream signaling pathways are potentially helpful and novel tools to counteract and fight breast cancer. However, recent advances in our understanding of ERS are focused on characterizing and modulating ERS between healthy and disease states, and so little attention has been paid to studying the role and clinical application of targeting ERS in a certain cancer. In this review, we summarize the function and main mechanisms of ERS in different molecular types of breast cancer, and focus on the development of agents targeting ERS to provide new treatment strategies for breast cancer. Video Abstract.

An East-West contrast in executive function: Measurement invariance of computerized tasks in school-aged children and adolescents.

Existing cross-cultural findings related to school-aged children's executive function (EF) from studies using computerized tasks highlight both an East-West contrast (East > West) and potential methodological confounds (e.g., contrasting levels of computer fluency). Capitalizing on two recent data sets, this multisite study of 1,311 children living in mainland China (n = 453; Mage = 11.89 years, SD = 0.87), Hong Kong (n = 371; Mage = 12.21 years, SD = 0.99), and the United Kingdom (n = 487; Mage = 11.91 years, SD = 0.93) tested measurement invariance of a computerized EF-task battery prior to investigating cultural contrasts in mean levels of EF efficiency scores. Our models established partial scalar invariance across sites. Latent factor means were substantially lower for British children than for their counterparts from either mainland China or Hong Kong, with a significant but smaller contrast between the latter two groups. Within the Chinese sample, self-reported computer use was unrelated to variation in children's performance on online tests of EF, indicating that peripheral effects of task modality are unlikely to explain the between-culture differences in EF task performance.

Do executive functions mediate the link between socioeconomic status and numeracy skills? A cross-site comparison of Hong Kong and the United Kingdom.

In the fields of education, sociology, and economics, there is a long-standing connection between socioeconomic status (SES) and school outcomes in a wide variety of cultural settings, but these studies have yet to examine the possible mediating effects of domain-general cognitive factors such as executive functions (EFs). Addressing this gap and building on evidence for links between EFs and numeracy, the current cross-cultural study used a large sample (N = 835) of 9- to 16-year-old children from Hong Kong and the United Kingdom to examine the independence and interplay of SES and EFs as predictors of numeracy skills. Our analyses yielded three key findings, namely that (a) EFs consistently predicted numeracy skills across sites and genders, (b) associations between SES and EFs differed by site and gender, and (c) associations between numeracy skills and SES/EFs differed by site and gender. Together with previous findings, our results suggest culture-specific associations among SES, EFs, and numeracy, indicating that cultural insights may enable impactful shifts in public policy to narrow the achievement gap between children from affluent and disadvantaged families.

Youth's Negative Stereotypes of Teen Emotionality: Reciprocal Relations with Emotional Functioning in Hong Kong and Mainland China.

In Western society, there has been a history of perceiving adolescence as a time of "storm and stress," during which youth may go through heightened negative experiences such as conflict with parents, disengagement from school, and emotional dysfunction. Despite increasing attention to positive youth development, such negative stereotypes of adolescence may be held by youth themselves, which undermine their behavioral and neural development. However, youth's stereotypes of teen emotionality in particular (i.e., beliefs that teens typically experience greater emotionality than younger children) and the role of such stereotypes in youth's emotional functioning have not been examined. This longitudinal study investigated the reciprocal relations between youth's negative stereotypes of teen emotionality and their emotional functioning (i.e., emotional expressivity and emotion regulation) in Hong Kong and Mainland China, two regions in China sharing Chinese cultural traditions but differing in the extent of exposure to Western influence (N = 1269; 55% girls; M age = 12.86 years). Although youth in Hong Kong saw the teen years as a time of heightened emotionality more than did their counterparts in Mainland China, such stereotypes predicted youth's greater emotional expressivity and less emotion regulation over the 7th grade in both regions. Moreover, in both regions, youth's negative expressivity reciprocally predicted their stronger stereotypes of teen emotionality over time. Taken together, these findings demonstrate the role of youth's stereotypes of teen emotionality in shaping their emotional expressivity and emotion regulation during early adolescence, and also the role of youth's negative expressivity in reinforcing their stereotypes. Moreover, these findings highlight the relevance of the Western-popularized perception of adolescence as a time of "storm and stress" in non-Western regions in a world of increasing globalization and societal change.

The Role of Mothers' Child-Based Worth in Their Affective Responses to Children's Performance.

This research examined whether American and Chinese mothers' tendencies to base their worth on children's performance contributes to their affective responses to children's performance. Study 1 used daily interviews to assess mothers' warmth (vs. hostility) and children's school performance (N = 197; Mage  = 12.81 years). In Study 2, such affect was observed in the laboratory following children's manipulated performance on cognitive problems (N = 128; Mage  = 10.21 years). The more mothers based their worth on children's performance, the more their warmth (vs. hostility) decreased when children failed in Study 1. This pattern was evident only among Chinese mothers in Study 2. In both studies, child-based worth did not contribute to mothers' affective responses to children's success.

Efficiency of Executive Function: A Two-Generation Cross-Cultural Comparison of Samples From Hong Kong and the United Kingdom.

Although Asian preschoolers acquire executive functions (EFs) earlier than their Western counterparts, little is known about whether this advantage persists into later childhood and adulthood. To address this gap, in the current study we gave four computerized EF tasks (providing measures of inhibition, working memory, cognitive flexibility, and planning) to a large sample ( n = 1,427) of 9- to 16-year-olds and their parents. All participants lived in either the United Kingdom or Hong Kong. Our findings highlight the importance of combining developmental and cultural perspectives and show both similarities and contrasts across sites. Specifically, adults' EF performance did not differ between the two sites; age-related changes in executive function for both the children and the parents appeared to be culturally invariant, as did a modest intergenerational correlation. In contrast, school-age children and young adolescents in Hong Kong outperformed their United Kingdom counterparts on all four EF tasks, a difference consistent with previous findings from preschool children.

Immigrant Chinese Mothers' Socialization of Achievement in Children: A Strategic Adaptation to the Host Society.

Academic socialization by low-income immigrant mothers from Mainland China was investigated in two studies. Immigrant Chinese mothers of first graders (n = 52; Mage  = 38.69) in the United States (Study 1) and kindergartners (n = 86; Mage  = 36.81) in Hong Kong (Study 2) tell stories that emphasized achieving the best grade through effort more than did African American (n = 39; Mage  = 31.44) and native Hong Kong (n = 76; Mage  = 36.64) mothers, respectively. The emphasis on achievement was associated with mothers' heightened discussion on discrimination (Study 1) and beliefs that education promotes upward mobility (Study 2), as well as children's expectations that a story protagonist would receive maternal criticism for being nonpersistent in learning (Study 2).

Improving efficiency using the Rao-Blackwell theorem in corrected and conditional score estimation methods for joint models.

Longitudinal covariates in survival models are generally analyzed using random effects models. By framing the estimation of these survival models as a functional measurement error problem, semiparametric approaches such as the conditional score or the corrected score can be applied to find consistent estimators for survival model parameters without distributional assumptions on the random effects. However, in order to satisfy the standard assumptions of a survival model, the semiparametric methods in the literature only use covariate data before each event time. This suggests that these methods may make inefficient use of the longitudinal data. We propose an extension of these approaches that follows a generalization of Rao-Blackwell theorem. A Monte Carlo error augmentation procedure is developed to utilize the entirety of longitudinal information available. The efficiency improvement of the proposed semiparametric approach is confirmed theoretically and demonstrated in a simulation study. A real data set is analyzed as an illustration of a practical application.

Why are Chinese mothers more controlling than American mothers? "My child is my report card".

Chinese parents exert more control over children than do American parents. The current research examined whether this is due in part to Chinese parents' feelings of worth being more contingent on children's performance. Twice over a year, 215 mothers and children (Mage  = 12.86 years) in China and the United States (European and African American) reported on psychologically controlling parenting. Mothers also indicated the extent to which their worth is contingent on children's performance. Psychologically controlling parenting was higher among Chinese than American mothers, particularly European (vs. African) American mothers. Chinese (vs. American) mothers' feelings of worth were more contingent on children's performance, with this contributing to their heightened psychological control relative to American mothers.

Low back pain tied to spinal endometriosis.

STUDY DESIGN: Case report. OBJECTIVE: We present a case of endometriosis of lumbar vertebrae. The literatures are reviewed with endometriosis of spine. Endometriosis is a common condition, which is defined as endometrial tissue lying outside the endometrial cavity. It is usually found within the peritoneal cavity, predominantly within the pelvis, commonly on the uterosacral ligaments. It can also be found in other sites such as umbilicus, abdominal scars, nasal passages and pleural cavity. But it is very rarely seen in the spine, with no report of endometriosis found in the lumbar vertebrae. METHOD: A 33-year-old woman presented with severe low back pain. She had the low back pain periodically for 3 years, and the pain was associated with menstruation. Radiographs showed a lesion in the posterior L3 body. After surgery, tissue biopsy indicated the presence of endometrial tissue in the lesion and thus confirmed endometriosis. RESULTS: Most cases of spine endometriosis that have been reported are usually found inside spinal canal, endorachis or spinal cord. But spinal vertebrae can also be involved in endometriosis. CONCLUSIONS: Although endometriosis is a rare possible cause of periodical low back pain in women of childbearing age, we suggest that if a woman suffering from periodical low back pain is encountered, do not ignore the possibility of endometriosis in the spine.

Alkynyl nicotinamides show antileukemic activity in drug-resistant acute myeloid leukemia.

Activating mutations of FLT3 contribute to deregulated hematopoietic stem and progenitor cell (HSC/Ps) growth and survival in patients with acute myeloid leukemia (AML), leading to poor overall survival. AML patients treated with investigational drugs targeting mutant FLT3, including Quizartinib and Crenolanib, develop resistance to these drugs. Development of resistance is largely due to acquisition of cooccurring mutations and activation of additional survival pathways, as well as emergence of additional FLT3 mutations. Despite the high prevalence of FLT3 mutations and their clinical significance in AML, there are few targeted therapeutic options available. We have identified 2 novel nicotinamide-based FLT3 inhibitors (HSN608 and HSN748) that target FLT3 mutations at subnanomolar concentrations and are potently effective against drug-resistant secondary mutations of FLT3. These compounds show antileukemic activity against FLT3ITD in drug-resistant AML, relapsed/refractory AML, and in AML bearing a combination of epigenetic mutations of TET2 along with FLT3ITD. We demonstrate that HSN748 outperformed the FDA-approved FLT3 inhibitor Gilteritinib in terms of inhibitory activity against FLT3ITD in vivo.

Hyperthermia promotes M1 polarization of macrophages via exosome-mediated HSPB8 transfer in triple negative breast cancer.

PURPOSE: To investigate the mechanism underlying the modulation of M1 macrophage polarization by exosomes released from hyperthermia-treated triple-negative breast cancer (TNBC) cells. MATERIALS AND METHODS: In this study, the effects of hyperthermia on TNBC cells were examined using cell counting kit-8, apoptosis, and cell cycle assays. Transmission electron microscopy was used to identify the structure of exosomes, while bicinchoninic acid and nanoparticle tracking analysis were used to detect particle size and amounts of exosomes released after hyperthermia. The polarization of macrophages incubated with exosomes derived by hyperthermia-pretreated TNBC cells were assessed by RT-qPCR and flow cytometry analysis. Next, RNA sequencing was performed to determine the targeting molecules changed in hyperthermia-treated TNBC cells in vitro. Finally, the mechanism underlying the modulation of macrophage polarization by exosomes derived from hyperthermia-treated TNBC cells was examined by using RT-qPCR, immunofluorescence and flow cytometry analysis. RESULTS: Hyperthermia markedly reduced cell viability in TNBC cells and promoted the secretion of TNBC cell-derived exosomes. The hub genes of hyperthermia-treated TNBC cells were significantly correlated with macrophage infiltration. Additionally, hyperthermia-treated TNBC cell-derived exosomes promoted M1 macrophage polarization. Furthermore, the expression levels of heat shock proteins, including HSPA1A, HSPA1B, HSPA6, and HSPB8, were significantly upregulated upon hyperthermia treatment, with HSPB8 exhibiting the highest upregulation. Moreover, hyperthermia can induce M1 macrophage polarization by promoting exosome-mediated HSPB8 transfer. CONCLUSION: This study demonstrated a novel mechanism that hyperthermia can induce M1 polarization of macrophages via exosome-mediated HSPB8 transfer. These results will help with future development of an optimized hyperthermia treatment regime for clinical application, especially for combination treatment with immunotherapy.

Vaspin accelerates the proliferation, invasion and metastasis of Triple-Negative breast cancer through MiR-33a-5p/ABHD2.

OBJECTIVE: To explore the influence and the underlying mechanism of vaspin (visceral adipose tissue-derived serpin) on the development of triple-negative breast malignancy. METHODS: First, we analyzed medical records and screened out 22 breast cancer patients with different BMI according to inclusion and exclusion criterion, and measured serum vaspin of those patients. Then we studied the effects of vaspin on TNBC cell lines by using EdU assay, colony formation, transwell and wound-healing assay. Later, we used bioinformatics analysis to identify downstream effectors and verify with qRT-PCR, luciferase assay, western blot, etc. RESULTS: We found the vaspin level was positively correlated with BMI in breast malignant patients and vaspin could significantly enhance the proliferation, infiltration and transferring of triple-negative breast cancer cells by restraining the expression of miR-33a-5p. By using bioinformatic analysis and luciferase assay, we identified miR-33a-5p directly regulating ABHD2. CONCLUSION: Vaspin, as a cancer-promoting cytokine, may inhibit miR-33a-5p thus increasing the level of ABHD2 to promote the development of the triple-negative breast cancer.

Clinical characteristics, management, and quality of life of psoriasis patients with coexistent lupus erythematosus: Data from the Malaysian Psoriasis Registry.

OBJECTIVE: To describe the clinical characteristics, management and quality of life of psoriasis patients with and without coexistent lupus erythematosus (LE). METHODS: This retrospective cross-sectional study uses data from the Malaysian Psoriasis Registry (MPR) from January 2007 to December 2018. RESULTS: Of 21 735 psoriasis patients, 34 (0.16%) had coexistent LE. The male to female ratio among psoriasis patients with coexistent LE was 1:5.8 versus 1.3:1 in patients with psoriasis but without LE. Nearly 70% presented with LE preceding psoriasis. Psoriasis patients with LE had an earlier age of psoriasis onset (27.56 ± 11.51 versus 33.31 ± 16.94 years, P = 0.006), a higher rate of psoriatic arthropathy (26.5% versus 13.0%, P = 0.02), and a significantly greater impairment of quality of life (Dermatology Quality of Life Index >10; 57.6% versus 40.3%, P = 0.04) compared with psoriasis patients without LE. The majority (87.5%) had systemic LE. The incidences of lupus nephritis (72.7% versus 40%) and hematological abnormalities (50% versus 20%) were higher among patients with LE preceding psoriasis compared with those with psoriasis preceding LE. Antinuclear antibody and double-stranded DNA were positive in 59.4% and 28.1% of psoriasis patients with LE, respectively. Hydroxychloroquine triggered the onset of psoriasis in 7 (24.1%) patients. Patients with LE were more likely to receive systemic treatment for psoriasis compared with those without LE (30.3% versus 14.2%, P = 0.008). CONCLUSIONS: Psoriasis patients with coexistent LE were uncommon, displayed a female preponderance, were more likely to have joint involvement, and had greater quality of life impairment than those without LE. LE preceded psoriasis in most of these patients, and systemic LE was the most common subtype.

Identification of genetic variants in five chinese families with keratoconus: Pathogenicity analysis and characteristics of parental corneal topography.

Purpose: The study aims to identify genetic variants in five Chinese families with Keratoconus (KC) and describe the characteristics of parental corneal topography. Methods: Fifteen participants, including five probands and ten parents from five Chinese families with KC, were recruited for genetic and clinical analyses. Targeted next-generation sequencing using a custom-designed panel for KC was applied on the probands for variant identification. Sanger sequencing and cosegregation analysis of the suspected pathogenic variants were performed on the family members. The pathogenicities of variants were evaluated according to the American College of Medical Genetics and Genomics guidelines (ACMG). Pentacam 3D anterior segment analysis system was applied for keratectasia detection and the Corvis ST for corneal biomechanics measurement. Fifteen parameters were recorded, including nine keratectasia indicators (BAD-D, TP, Kmax, Df, Db, Dp, Dt, Da, ARTH), six corneal biomechanical indicators (CBI, DA ratio, SP-A1, IR, bIOP, TBI). Results: A total of six novel variants, including five missense variants and one frameshift variant, were detected in the HMX1, SLC4A11, TGFBI, PIKFYVE, and ZEB1 genes in five probands, all of which showed co-segregation of genotype and clinical phenotype and were determined to be pathogenic. The genetic model was autosomal dominant (AD) in four families and autosomal recessive (AR) in 1 family. The analysis of keratectasia and corneal biomechanical indicators of the proband's parents (first-generation relatives) in AD families revealed that there were several abnormal indexes in BAD-D, TP, Kmax, Df, Db, Dp, Dt, Da, CBI, DA ratio, SP-A1, IR, bIOP and TBI test indexes, showing clinical characteristics of incipient KC. Conclusion: Our study shows that variants in HMX1, SLC4A11, TGFBI, PIKFYVE, and ZEB1 were associated with KC. Our study extends the gene spectrum associated with KC, provides novel insights into KC phenotypic assessments, and contributes to early diagnosis for these patients.