Genetic analysis of 46,XY disorders of sex development in children caused by a new NR5A1 gene variant.
10.3760/cma.j.cn511374-20200902-00645
- VernacularTitle:一例
NR5A1基因新变异所致46，XY性发育异常的遗传学分析
- Author:
Long GAO
1
;
Ping WANG
;
Mingying ZHANG
;
Ying QIAN
;
Nan LIU
;
Xiaowei XU
;
Xuetao WANG
;
Jianbo SHU
;
Ling LYU
Author Information
1. Department of Endocrinology, Tianjin Children's Hospital (Tianjin University Children's Hospital), Tianjin 300134, China. shjb1981@sina.com.
- Publication Type:Journal Article
- MeSH:
Child;
Disorder of Sex Development, 46,XY/genetics*;
Disorders of Sex Development/genetics*;
Exons/genetics*;
Female;
Genetic Testing;
Heterozygote;
Humans;
Mutation;
Steroidogenic Factor 1/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(11):1123-1126
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child with 46,XY disorders of sex development (DSD) and explore its genotype-phenotype correlation.
METHODS:The child was subjected to whole exome sequencing (WES), and exons 1 to 7 of NR5A1 were subjected to multiplex ligation-dependent probe amplification (MLPA) analysis.
RESULTS:The patient presented with rudimentary vulva of a female with Tanner stage 1. B-mode ultrasonography has detected ovary and uterus. The child was found to have a chromosome karyotype of 46,XY. WES revealed that the patient has harbored heterozygous deletion of exon 5 of the NR5A1 gene, which was a novel pathogenic variant inherited from the mother. No abnormality was found in the father.
CONCLUSION:The main symptoms of 46,XY DSD children are insufficient external genitalia masculinization, for which variants of the NR5A1 gene are an important cause. WES has improved the detection rate of genetic variants and provided a solid basis for genetic counseling of the affected families.
