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Article

Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.

The Annals of otology, rhinology, and laryngology - 1 May 2015

Yoshimura Hidekane, Hashimoto Takao, Murata Toshinori, Fukushima Kunihiro, Sugaya Akiko, Nishio Shin-Ya, Usami Shin-Ichi

Abstract excerpt

OBJECTIVE: This study examines ABHD12 mutation analysis in 2 PHARC patients, originally thought to be Usher syndrome. METHODS: The ABHD12 gene of 2 patients, who suffered from deaf-blindness and dysfunctional central and peripheral nervous systems, were sequenced. RESULTS: We identified that both cases carried the same novel splice site mutation in the ABHD12 gene. However, 1 had epilepsy and the other had...

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Source

Identifiers

PMID: 25743180
DOI: 10.1177/0003489415574513

Genes

ABHD12

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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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