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Article

Complete androgen insensitivity syndrome caused by a novel mutation in the androgen receptor gene and its mechanism.

Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2022

Zhou Dan, Xu Hua, Shen Xiaorong, Gu Ruihuan, Chen Ying, Chen Guowu, Li Pan, Shi Huijuan, Sun Xiaoxi, Xin Aijie

Abstract excerpt

Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disease characterized by disorders of sex development, commonly caused by mutations of the androgen receptor (AR) gene. Herein, we identified a novel hemizygous mutation (c.2118T > A, p. Asn706Lys) of AR resulting in complete androgen insensitivity syndrome (CAIS) in twins. This missense mutation contributed to significantly decreased mRNA...

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Identifiers

PMID: 35351434
DOI: 10.1016/j.cca.2022.03.021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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