Diagnosis and genetic analysis of a case of Waardenburg syndrome type 2 with hypogonadotropic hypogonadism caused by SOX10 gene deletion.

Hypogonadotropic hypogonadism (HH) is a disease defined by dysfunction of the hypothalamic- pituitary-gonadal hormone axis, leading to low sex hormone levels and impaired fertility. HH with anosmia or hyposmia is known as Kallmann syndrome (KS). Waardenburg syndrome (WS) is a rare autosomal dominant genetic disorder characterized by sensorineural hearing loss and abnormal pigmentation. In this report, we collected the clinical data of a patient with hypogonadotropic hypogonadism and congenital hearing loss of unknown cause. The patient had no obvious secondary sexual characteristics development after puberty, and had a heterozygous deletion (at least 419 kb) in 22q13.1 region (Chr.22:38106433-38525560), which covered the SOX10 gene. The abnormalities were not found in gene sequencing analysis of both the parents and sister of the proband. By summarizing and analyzing the characteristics of this case, we further discussed the molecular biological etiological association between HH and WS type 2. This case also enriches the clinical data of subsequent genetic studies, and provides a reference for the diagnosis and treatment of such diseases.

Association of Interleukin-6 -174G/C Polymorphism with the Risk of Diabetic Nephropathy in Type 2 Diabetes: A Meta-analysis.

Previous studies reported the association between interleukin-6 (IL-6) -174G/C gene polymorphism and the risk of diabetic nephropathy in type 2 diabetes mellitus (T2DN). However, the results remain controversial. In the present study, we conducted a meta-analysis to further examine this relationship between IL-6-174G/C gene polymorphism and T2DN. Three databases (PubMed, SinoMed and ISI Web of Science) were used to search clinical case-control studies about IL-6-174G/C polymorphism and T2DN published until Apr. 14, 2018. Fixed- or random-effects models were used to calculate the effect sizes of odds ratio (OR) and 95% confidence intervals (95% CI). Moreover, subgroup analysis was performed in terms of the excretion rate of albuminuria. All the statistical analyses were conducted using Stata 12.0. A total of 11 case-control studies were included in this study, involving 1203 cases of T2DN and 1571 cases of T2DM without DN. Meta-analysis showed that there was an association between IL-6-174G/C polymorphism and increased risk of T2DN under the allelic and recessive genetic models (G vs. C: OR=1.10, 95%CI 1.03-1.18, P=0.006; GG vs. CC+GC: OR=1.11, 95%CI 1.02-1.21 P=0.016). In the subgroup analysis by albuminuria, a significant association of IL-6-174G/C polymorphism with risk of T2DN was noted in the microalbuminuria group under the recessive model (OR=1.54, 95% CI 1.02-2.32, _P=0.038). In conclusion, this meta-analysis suggests that IL-6-174G/C gene polymorphism is associated with the risk of T2DN.