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Article

Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.

Molecules and cells - 1 Sept 2015

Chang Mun Young, Kim Ah Reum, Kim Nayoung K D, Lee Chung, Lee Kyoung Yeul, Jeon Woo-Sung, Koo Ja-Won, Oh Seung Ha, Park Woong-Yang, Kim Dongsup, Choi Byung Yoon

Abstract excerpt

Mutations of MYO15A are generally known to cause severe to profound hearing loss throughout all frequencies. Here, we found two novel MYO15A mutations, c.3871C>T (p.L1291F) and c.5835T>G (p.Y1945X) in an affected individual carrying congenital profound sensorineural hearing loss (SNHL) through targeted resequencing of 134 known deafness genes. The variant, p.L1291F and p.Y1945X, resided in the myosin motor and...

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Identifiers

PMID: 26242193
DOI: 10.14348/molcells.2015.0078
PMCID: PMC4588721

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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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Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.PMID 26242193Read ↗

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