Genetic analysis and prenatal diagnosis for ten families affected with tuberous sclerosis complex.

VernacularTitle:10例结节性硬化症基因突变分析及产前诊断
Author: Yuchun PAN ^{1
,

2} ; Weiqing WU ; Caiqun LUO ; Jiansheng XIE ; Zhiyong XU ; Qian GENG ; Ying HAO
Author Information

1. Prenatal Diagnosis Center, Shenzhen Maternity and Child Healthcare Hospital Affiliated to Southern Medical University
2. Shenzhen Key Laboratory for Birth Defects Prevention and Control, Shenzhen, Guangdong 518000, China. Email: jsxieszmch@aliyun.com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2018;35(1):18-22
CountryChina
Language:Chinese
Abstract: OBJECTIVE To provide prenatal diagnosis for families affected with tuberous sclerosis complex and explore the correlation between phenotype and genotype. METHODS For probands from 10 families, all exons and splicing regions of the TSC1 and TSC2 genes were analyzed with high throughput DNA sequencing. Suspected mutations were verified by Sanger sequencing. RESULTS All probands were found to have mutations, which included 1 case with TSC1 mutation and 9 cases with TSC2 mutations (missense mutations in 6, nonsense mutations in 2, and frameshifting mutation in 1 case). Prenatal diagnosis was provided for 9 cases, and 1 fetus was found to carry a mutation. Genetic analysis has identified a novel pathogenic mutation (TSC2 c.2415-2416 ins GT). CONCLUSION Identification of pathological mutations for tuberous sclerosis complex can facilitate genetic counseling and prenatal diagnosis for the affected families.