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Article

Late-onset hearing loss case associated with a heterozygous truncating variant of DIAPH1.

Clinical genetics - 1 Apr 2022

Kim Bong Jik, Miyoshi Takushi, Chaudhry Taimur, Friedman Thomas B, Choi Byung Yoon, Ueyama Takehiko

Abstract excerpt

Diaphanous-related formin 1 (DIAPH1) is a formin homology F-actin elongating protein encoded by DIAPH1. Homozygous recessive variants resulting in the loss of DIAPH1 function cause seizures, cortical blindness, and microcephaly syndrome (SCBMS), but hearing loss has not been reported. In contrast, dominant variants of human DIAPH1 are associated with DFNA1 non-syndromic sensorineural hearing loss. The deafness...

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Identifiers

PMID: 35060117
DOI: 10.1111/cge.14115
PMCID: PMC8981108

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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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