Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development.

ABSTRACT:

Purpose

This study aimed to present the clinical features and gene mutation characteristics of a child with 46,XY disorders of sex development (DSD) caused by a novel heterozygous mutation in the NR5A1 gene to determine the potential association between this heterozygous mutation and the pathogenesis of 46,XY DSD.

Methods

We present the case of a Chinese child with ambiguous genitalia at birth but a normal adrenal gland. Targeted next-generation sequencing, comprising 163 candidate genes involved in sexual differentiation and development, was performed, followed by the functional evaluation of the novel NR5A1 mutation.

Result

The patient had a novel heterozygous mutation in the NR5A1 gene, c.630delG (p.Y211Tfs*85). Results revealed that overexpression of p.Y211Tfs*85

SUBMITTER: Pan S 

PROVIDER: S-EPMC7056794 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature