Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing.

ABSTRACT:

Objective

To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD).

Subjects and methods

Genomic DNA was extracted from a Chinese 46, XY DSD patient. Targeted next-generation and Sanger sequencing were performed to investigate and validate the gene mutation causing 46, XY DSD, respectively. In silico tools were used to predict the pathogenicity of the variant. Dual luciferase reporter gene assay and minigene splicing reporter assay were used to identify the pathogenicity of the variant.

Results

A novel heterozygous variant, c.244G>T (p.Ala82Ser), in NR5A1 gene was detected in the 46, XY DSD patient. Four of five silico tools predicting pathogenicity of missense variants indica

SUBMITTER: Yu B 

PROVIDER: S-EPMC8406614 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature