Analysis of TMC1 gene variants and prenatal diagnosis in four Chinese families affected with deafness.
10.3760/cma.j.cn511374-20200302-00118
- VernacularTitle:四个遗传性耳聋家系的
TMC1基因变异分析及产前诊断
- Author:
Shumin REN
1
,
2
;
Chen CHEN
;
Xiangdong KONG
Author Information
1. Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@
2. net.
- Publication Type:Journal Article
- MeSH:
China;
Deafness/genetics*;
Female;
Genetic Variation;
Humans;
Infant, Newborn;
Male;
Membrane Proteins/genetics*;
Mutation;
Pedigree;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2021;38(1):37-41
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis of four Chinese families affected with deafness.
METHODS:All probands were subjected to next generation sequencing (NGS). Suspected variant were verified by Sanger sequencing among the family members. Prenatal diagnosis was provided for three couples through Sanger sequencing.
RESULTS:All probands were found to carry pathogenic variants of the TMC1 gene, which included c.100C>T (p.R34X) and c.642+4A>C in family 1, c.582G>A (p.W194X) and c.589G>A (p.G197R) in family 2, c.1396_1398delAAC and c.1571T>C (p.F524S) in family 3, and homozygosity of c.2050G>C (p.D684H) in family 4. All parents were heterozygous carriers of the variants. The c.642+4A>C and c.1571T>C (p.F524S) were unreported previously. Prenatal diagnosis revealed that none of the fetuses were affected. Follow-up confirmed that all newborns had normal hearing.
CONCLUSION:Variant of the TMC1 gene probably underlay the deafness in the four families. Above findings have enhanced our understanding of the function of the TMC1 gene and enriched its variant spectrum. The results also facilitated genetic counseling and prenatal diagnosis for the families.
