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Article

The first sporadic case of DFNA11 identified by next-generation sequencing.

International journal of pediatric otorhinolaryngology - 1 Sept 2017

Kaneko Yuka, Nakano Atsuko, Arimoto Yukiko, Nara Kiyomitsu, Mutai Hideki, Matsunaga Tatsuo

Abstract excerpt

We report the first sporadic case of nonsyndromic autosomal dominant hearing loss (DFNA11). The patient was a 5-year-old boy with moderate bilateral hearing loss. Targeted next-generation sequencing analysis of patient DNA identified a known heterozygous DFNA11 mutation, c.689C > T, in MYO7A, encoding p.Ala230Val. The mutation was not detected in the parents of the patient and is considered to be de novo. This...

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PMID: 28802369
DOI: 10.1016/j.ijporl.2017.07.007

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

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