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Article

Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.

American journal of medical genetics. Part A - 1 Oct 2017

Ganaha Akira, Kaname Tadashi, Shinjou Ayano, Chinen Yasutsugu, Yanagi Kumiko, Higa Teruyuki, Kondo Shunsuke, Suzuki Mikio

Abstract excerpt

In this study, we describe a Japanese family with progressive hearing loss and macrothrombocytopenia. Using next-generation and Sanger sequencing analyses, we identified a heterozygous variant in exon 27 of the DIAPH1 gene (NM_005219), c.3637C>T, p.R1213X. All patients in the family had sensorineural hearing loss and macrothrombocytopenia. None of the patients exhibited a tendency to bleed. No pathogenic variants...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28815995
DOI: 10.1002/ajmg.a.38411

Genes

DIAPH1
MYH9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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