De novo TCOF1 mutation in Treacher Collins syndrome.

OBJECTIVE: To analyze the genetic cause of a hearing loss child with the Treacher Collins syndrome (TCS) phenotypes of malar hypoplasia, micrognathia, antimongoloid slanting palpebral fissures and cup ears. METHODS: Clinical analysis, hearing tests, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were performed on the family members. RESULTS: The 6 months old boy with a range of Treacher Collins syndrome phenotypes including malar hypoplasia, micrognathia, antimongoloid slanting palpebral fissures, cup ears, and hearing loss. While CMA analyses did not detect significant deletion or duplication, WES analysis identified a novel nonsense mutation c.163C > T (p.Q55X) in exon 2 of TCOF1 gene. Sanger sequencing analysis confirmed the mutation in the patient, but not in his parents. CONCLUSION: This article reports a novel nonsense mutation located at exon 2 in TCOF1 gene, which predicts premature protein termination of treacle, indicating that haploinsufficiency of TCOF1 gene is responsible for Treacher Collins syndrome. Our study increases the cohort of Chinese TCS patients, and expands the TCS variation spectrum.

Association of serum high-density lipoprotein cholesterol with microalbuminuria in type 2 diabetes patients.

BACKGROUND: The association of serum high-density lipoprotein cholesterol (HDL-C) with microalbuminuria in type 2 diabetes mellitus (T2DM) remains controversial. Therefore, a cross-sectional study was conducted on patients with T2DM to investigate the relationship of HDL-C with microalbuminuria. METHODS: A total of 524 participants with T2DM were recruited in this cross-sectional study. The patients were divided into four groups according to serum HDL-C quartile. A nonparametric test was employed to assess the relationships across quartiles with clinical parameters and demographics. Multivariate logistic regression analysis was further performed. RESULTS: Of the 524 patients, 138 (26.3%) were found to have microalbuminuria by urinary albumin excretion rate determination. Serum HDL-C levels in microalbuminuria group were significantly lower than those in non-microalbuminuria group (1.04 (0.90-1.21) vs. 1.10 (0.94-1.31) mmol/L, P = 0.002). The nonparametric test for trend showed that the prevalence of microalbuminuria was significantly reduced for subjects of the fourth quartile of HDL-C compared to the first to third quartile (13.5% vs. 33.1%, 28.6%, 29.4%, P = 0.001). Multivariate logistic regression showed that subjects within the highest quartile of HDL-C had lower odds of microalbuminuria than those within the lowest quartile of HDL-C (OR = 0.17, 95% CI 0.15-0.52, P = 0.004). CONCLUSIONS: Higher levels of serum HDL-C were associated with decreased rates of microalbuminuria in T2DM patients.

High prevalence of subclinical thyroid dysfunction and the relationship between thyrotropin levels and cardiovascular risk factors in residents of the coastal area of China.

OBJECTIVES: To investigate the prevalence of subclinical thyroid dysfunction and the relationship between thyrotropin levels and cardiovascular risk factors in residents of the coastal area of China. METHODS: Atotalof4256individuals(mean[±SD]age50.51±14.24years; 2079 males, 2177 females,) were enrolled in the present study. Sex, blood pressure, body mass index, waist-to-hip ratio, serum levels of fasting glucose, total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, triglycerides, uric acid and smoking status were measured. The relationship between thyrotropin levels and cardiovascular risk factors was analyzed. RESULTS: The overall prevalence of thyroid dysfunction was 11.07%. The prevalence of subclinical hypothyroidism (6.32%) was higher than that of hyperthyroidism (1.53%). The prevalence of thyroid dysfunction among female subjects was higher than that among male subjects (16.54% versus 5.34%, respectively; P<0.001). Significant differences were detected with respect to body mass index (P=0.026), waist-to-hip ratio (P<0.001), fasting glucose levels (P=0.001), total cholesterol levels (P=0.013), triglyceride levels (P=0.003) and smoking status according to different thyrotropin levels. CONCLUSION: The prevalence of thyroid dysfunction was high in residents of China's coastal area. Significant differences were detected with regard to body mass index, waist-to-hip ratio, fasting glucose levels, total cholesterol levels, triglyceride levels and smoking status according to different thyrotropin levels.