Genetic analysis of a child with SATB2­associated syndrome and literature study.

The present study aimed to investigate clinical phenotype and genotype characteristics of a male child with SATB2-associated syndrome (SAS) and analyzed the relationship between these characteristics and the possible underlying genetic mechanism. His clinical phenotype was analyzed. Using a high-throughput sequencing platform, his DNA samples were subjected to medical exome sequencing, screened for suspected variant loci and analyzed for chromosomal copy number variations. The suspected pathogenic loci were verified by Sanger sequencing. He presented with phenotypic anomalies of delayed growth, delayed speech and mental development, facial dysmorphism showing the typical manifestation of SAS and motor retardation symptoms. Gene sequencing result analyses revealed a de novo heterozygous repeat insertion shift mutation in the SATB2 gene (NM_015265.3) c.771dupT (p.Met258Tyrfs*46), resulting in a frameshift mutation from methionine to tyrosine at the amino acid site 258 and a truncated protein with 46 amino acids missing. The parents showed no mutation at this locus. This mutation was identified as the nosogenesis of this syndrome in children. To the best of the authors' knowledge, this is the first report on this mutation. The clinical manifestations and gene variation characteristics of 39 previously reported SAS cases were analyzed together with this case. The findings of the present study suggested severely impaired language development, facial dysmorphism and varying degrees of delayed intellectual development as the characteristic clinical manifestations of SAS.

Association between MTR A2756G polymorphism and susceptibility to congenital heart disease: A meta-analysis.

The association between methionine synthase (MTR) A2756G (rs1805087) polymorphism and the susceptibility to congenital heart disease (CHD) has not been fully determined. A meta-analysis of case-control studies was performed to systematically evaluate the above association. Studies were identified by searching the PubMed, Embase, Web of Science, China National Knowledge Infrastructure, and WanFang databases from inception to June 20, 2021. Two authors independently performed literature search, data extraction, and quality assessment. Predefined subgroup analyses were carried out to evaluate the impact of the population ethnicity, source of healthy controls (community or hospital-based), and methods used for genotyping on the outcomes. A random-effects model was used to combine the results, and 12 studies were included. Results showed that MTR A2756G polymorphism was not associated with CHD susceptibility under the allele model (odds ratio [OR]: 0.96, 95% confidence interval [CI]: 0.86 to 1.07, P = 0.43, I2 = 4%), heterozygote model (OR: 0.95, 95% CI: 0.84 to 1.07, P = 0.41, I2 = 0%), homozygote model (OR: 1.00, 95% CI: 0.64 to 1.55, P = 0.99, I2 = 17%), dominant genetic model (OR: 0.95, 95% CI: 0.84 to 1.07, P = 0.41, I2 = 0%), or recessive genetic model (OR: 0.94, 95% CI: 0.62 to 1.43, P = 0.32, I2 = 13%). Consistent results were found in subgroup analyses between Asian and Caucasian populations in studies with community and hospital-derived controls as well as in studies with PCR-RFLP and direct sequencing (all P values for subgroup differences > 0.05). In conclusion, current evidence does not support an association between MTR A2756G polymorphism and CHD susceptibility.

Anophthalmia Caused by Familial Homozygous Mutation of VSX2: a Case Report.

BACKGROUND: Although rare, several mutations in the gene VSX2 (visual system homeobox 2, formerly CHX10) have been associated with congenital autosomal recessive anophthalmia (absence of one or both eyes). This report describes a proband, who at presentation was gravida 2, para 0, and 30 weeks pregnant. METHODS: A 30-year-old woman with congenital bilateral anophthalmia was 30 weeks pregnant at the time of presentation. Her parents were fourth-generation collateral blood relatives, and the familial congenital disease history suggested a possible genetic cause for her anophthalmia. Next generation sequencing and Sanger sequencing of blood samples of the patient, her parents, and her husband were conducted. The fetus was examined via ultrasound. RESULTS: The woman patient had a homozygous variation of the VSX2 gene (NM_182894.2) c.634delC (p.R211 Gfs*90). Both of her parents carried a heterozygous variation of this locus. The husband showed no pathogenic variation in VSX2. The fetal ultrasound revealed bilateral eyeball lenses. A healthy girl was delivered at 41 weeks gestation, with bilateral eyeballs visible. CONCLUSIONS: Homogenous mutation of VSX2 c.634delC (p.R211Gfs*90) has not been reported previously. The patient's congenital bilateral anophthalmia was due to this homogenous mutation, the result of familial inbreeding. Avoiding near-relative marriage is an important means of preventing such diseases.

Chromosome Microarray Analysis Detection of a Single Exon Deletion of the Duchenne Muscular Dystrophy Gene in a Fetus: a Case Report.

BACKGROUND: Amniocentesis was performed on a pregnant woman with a deletion of exon 45 of the Duchenne Muscular Dystrophy (DMD) gene. METHODS: Fetal Xp21.1 (31944831-32030363) x 0 was found by chromosome microarray analysis (CMA), i.e., 0.086 Mb hemizygote deletion was detected in the Xp21.1 region of the fetal X chromosome, which contained exon 45 of the DMD gene. RESULTS: The results verified by MLPA were consistent with those of CMA, which indicated that CMA was accurate in a single exon deletion in this fetus. This case suggests that CMA may become an essential method for the prenatal diagnosis of a fetus with DMD gene deletion/duplication. CONCLUSIONS: It can routinely detect chromosome copy number variation and analyze DMD diseases caused by exon duplication or deletion, which is enormously significant for new DMD exon deletion or duplication.

CXC chemokine IP-10: a key actor in liver disease?

Interferon-γ-inducible protein 10 (IP-10), or C-X-C motif chemokine (CXCL10), is a small cytokine belonging to the non-ELR CXC chemokine family. By binding to its specific receptor CXCR3, IP-10 recruits activated CXCR3+ T cells to the liver parenchyma and plays a pivotal role in liver disease initiation and progression. IP-10 is mainly secreted by hepatocytes and liver sinusoidal endothelium. Different IP-10 forms exert different functions: long-length IP-10 directs CXCR3+ T cell migration and is associated with inflammation, while short IP-10 is a CXCR3 antagonist, thereby playing protective role in liver injury. IP-10 levels are positively associated with the severity of liver inflammation, fibrosis stage and acute graft rejection. High IP-10 levels are closely related to anti-HCV therapy failure. Thus, IP-10 may be both a potential prognostic tool and a therapeutic target for the treatment of patients with HCV or HIV/HCV co-infection. The purpose of this review is to highlight the growing advances in basic knowledge and clinical interest of IP-10 in liver disease.

[An analysis of genetic diversity of different ecotypes of reed (Phragmites communis Trin.) by molecular marker techniques].

ISSR (inter-simple sequence repeat) and RAPD (random-amplified polymorphic DNA) markers were used to detect genetic diversity of 4 different ecotypes of reed (Phragmites communis Trin.) growing in Hexi Corridor, Gansu province. Nine effective primers were screened from 30 ISSR arbitrary primers, and a total of 99 DNA bands were amplified, among which 51 (51.5%) were polymorphic. Thirteen effective primers were screened from 45 RAPD 10-oligonucleotide arbitrary primers, and a total of 195 DNA bands were amplified, among which 87 (44.6%) were polymorphic. Genetic identity based on ISSR and RAPD data showed a positive correlation (r=0.845, P<0.05). Based on unweighted pair-group method with arithmetic averages (UPGMA) cluster analysis on DNA bands amplified, together with the correlation analysis between genetic distance and soil water contents and soluble salt contents as well, the present results suggest that the genetic diversity occurs among the four ecotypes of reed in adaptation to long term natural drought and salinity, showing an obvious evolutional tendency from swamp reed via salt meadow reed to dune reed.