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Article

A novel androgen receptor gene splice site mutation induces aberrant mRNA splicing and internal in-frame deletion in androgen insensitivity syndrome.

BMC medical genomics - 22 Apr 2026

Liao Baoqiong, Shuai Mei, Xiao Lin, Huang Gungao, He Ying, Wang Ya-Long, Wang Hao, He Shuwen

Abstract excerpt

Androgen insensitivity syndrome (AIS) is a disorder caused by pathogenic mutations in the androgen receptor (AR) gene, leading to androgen resistance and impaired sex differentiation in 46,XY individuals. Despite increasing recognition of AR mutations, the pathogenic mechanisms and genotype–phenotype correlations of many variants remain incompletely characterized. In this study, we identified a novel splice site...

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Share to Androgen-Insensitivity Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Androgen

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Source

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Identifiers

PMID: 42021352
DOI: 10.1186/s12920-026-02374-x
PMCID: PMC13238024

Genes

AR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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