Genetic screening and prenatal diagnosis in high-risk families with tuberous sclerosis complex syndrome.
10.3760/cma.j.cn511374-20200325-00203
- Author:
Rui LIN
1
;
Zhenhua ZHAO
;
Li'na LIU
;
Conghui WANG
;
Chen CHEN
;
Ning LIU
;
Jingjing MENG
;
Xiangdong KONG
Author Information
1. Center of Genetic and Prenatal Diagnosis, Department of Gynecology and Obstetrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@zzu.edu.cn.
- Publication Type:Journal Article
- MeSH:
DNA Mutational Analysis;
Female;
Genetic Testing;
Humans;
Mutation;
Pregnancy;
Prenatal Diagnosis;
Tuberous Sclerosis/genetics*;
Tuberous Sclerosis Complex 1 Protein/genetics*;
Tuberous Sclerosis Complex 2 Protein/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(5):435-438
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out genetic testing and prenatal diagnosis for 29 Chinese pedigrees affected with tuberous sclerosis complex (TSC) and assess efficacy of combined next generation sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA) for the diagnosis.
METHODS:NGS and MLPA were used in conjunct to detect variants of TSC1 and TSC2 genes among the probands of the pedigrees. Paternity test was carried out to exclude maternal DNA contamination. Prenatal diagnosis was provided to 14 couples based on the discoveries in the probands.
RESULTS:Twenty-seven variants were identified in the TSC1 and TSC2 genes among the 29 pedigrees, which yielded a detection rate of 93.1%. Respectively, 5 (18.5%) and 22 (81.5%) variants were identified in the TSC1 and TSC2 genes. Twelve variants were unreported previously. Prenatal diagnosis showed that five fetuses were affected with TSC, whilst the remaining nine were unaffected.
CONCLUSION:Above finding has expanded the spectrum of TSC1 and TSC2 gene variants. Combined NGS and MLPA has enabled diagnosis of TSC with efficiency and accuracy.
