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Article

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene.

Scientific reports - 2 Feb 2018

Ono Hiroyuki, Saitsu Hirotomo, Horikawa Reiko, Nakashima Shinichi, Ohkubo Yumiko, Yanagi Kumiko, Nakabayashi Kazuhiko, Fukami Maki, Fujisawa Yasuko, Ogata Tsutomu

Abstract excerpt

Although partial androgen insensitivity syndrome (PAIS) is caused by attenuated responsiveness to androgens, androgen receptor gene (AR) mutations on the coding regions and their splice sites have been identified only in <25% of patients with a diagnosis of PAIS. We performed extensive molecular studies including whole exome sequencing in a Japanese family with PAIS, identifying a deep intronic variant beyond the...

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Identifiers

PMID: 29396419
DOI: 10.1038/s41598-018-20691-9
PMCID: PMC5797100

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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