Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness.

Chang, Mun Young; Lee, Chung; Han, Jin Hee; Kim, Min Young; Park, Hye-Rim; Kim, Nayoung; Park, Woong-Yang; Oh, Doo Yi; Choi, Byung Yoon

Chang, Mun Young; Lee, Chung; Han, Jin Hee; Kim, Min Young; Park, Hye-Rim; Kim, Nayoung; Park, Woong-Yang; Oh, Doo Yi; Choi, Byung Yoon.

Afiliação

Chang MY; Department of Otorhinolaryngology-Head and Neck Surgery, Chung-Ang University College of Medicine, 102 Heukseok-ro, Dongjak-gu, 06973, Seoul, Republic of Korea.
Lee C; Samsung Genome Institute, Samsung Medical Center, 81 Irwon-ro, Gangnam-gu, 06351, Seoul, Republic of Korea.
Han JH; Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, 2066 Seobu-ro, Jangan-gu, 16419, Suwon, Republic of Korea.
Kim MY; Department of Otorhinolaryngology, Seoul National University Bundang Hospital, 82 Gumi-ro 173 beon-gil, Bundang-gu, 13620, Seongnam, 463-707, Republic of Korea.
Park HR; Department of Otorhinolaryngology, Seoul National University Bundang Hospital, 82 Gumi-ro 173 beon-gil, Bundang-gu, 13620, Seongnam, 463-707, Republic of Korea.
Kim N; Department of Otorhinolaryngology, Seoul National University Bundang Hospital, 82 Gumi-ro 173 beon-gil, Bundang-gu, 13620, Seongnam, 463-707, Republic of Korea.
Park WY; Samsung Genome Institute, Samsung Medical Center, 81 Irwon-ro, Gangnam-gu, 06351, Seoul, Republic of Korea.
Oh DY; Samsung Genome Institute, Samsung Medical Center, 81 Irwon-ro, Gangnam-gu, 06351, Seoul, Republic of Korea.
Choi BY; Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, 2066 Seobu-ro, Jangan-gu, 16419, Suwon, Republic of Korea.

BMC Med Genet ; 19(1): 29, 2018 02 27.

Article em En | MEDLINE | ID: mdl-29482514

Assuntos

Perda Auditiva Neurossensorial/genética; Miosinas/genética; Alelos; Sequência de Aminoácidos; Povo Asiático/genética; Implante Coclear; Exoma; Genes Recessivos; Humanos; Linhagem; Fenótipo; Polimorfismo de Nucleotídeo Único; Sequenciamento do Exoma

Palavras-chave

Deafness; MYO15A; Pathogenic variant; Phenotype

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miosinas / Perda Auditiva Neurossensorial Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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