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Article

A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome.

The Journal of steroid biochemistry and molecular biology - 1 Nov 2017

Batista Rafael Loch, Rodrigues Andresa di Santi, Nishi Mirian Yumie, Gomes Nathalia Lisboa, Faria José Antonio Diniz, Moraes Daniela Rodrigues de, Carvalho Luciani Renata, Costa Elaine Maria Frade, Domenice Sorahia, Mendonca Berenice Bilharinho

Abstract excerpt

Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY disorders of sex development (46,XY DSD). This syndrome is an X-linked inheritance disease and it is caused by mutations in the human androgen receptor (AR) gene. Non-synonymous point AR mutations are frequently described in this disease, including in the complete phenotype. We present a novel synonymous mutation in the human AR gene (c.1530C...

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Identifiers

PMID: 28743543
DOI: 10.1016/j.jsbmb.2017.07.020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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