Novel, pathogenic insertion variant of GSDME associates with autosomal dominant hearing loss in a large Chinese pedigree.

Cheng, Jingliang; Li, Ting; Tan, Qi; Fu, Jiewen; Zhang, Lianmei; Yang, Luquan; Zhou, Baixu; Yang, Lisha; Fu, Shangyi; Linehan, Alora Grace; Fu, Junjiang

Cheng, Jingliang; Li, Ting; Tan, Qi; Fu, Jiewen; Zhang, Lianmei; Yang, Luquan; Zhou, Baixu; Yang, Lisha; Fu, Shangyi; Linehan, Alora Grace; Fu, Junjiang.

Afiliação

Cheng J; Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, China.
Li T; Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, China.
Tan Q; Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, China.
Fu J; Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, China.
Zhang L; Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, China.
Yang L; Department of Pathology, The Affiliated Huai'an No. 1 People's Hospital of Nanjing Medical University, Huai'an, China.
Zhou B; Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, China.
Yang L; Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, China.
Fu S; Department of Gynecology and Obstetrics, Guangdong Women and Children Hospital, Guangzhou, China.
Linehan AG; Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, China.
Fu J; Department of Obstetrics, The Affiliated Hospital of Southwest Medical University, Luzhou, China.

J Cell Mol Med ; 28(1): e18004, 2024 01.

Article em En | MEDLINE | ID: mdl-37864300

Assuntos

Surdez; Perda Auditiva Neurossensorial; Perda Auditiva; Humanos; Linhagem; Perda Auditiva/genética; Surdez/genética; China; Mutação; Perda Auditiva Neurossensorial/genética

Palavras-chave

GSDME; genetics; nonsyndromic hearing loss (NSHL); variant; whole-exome sequencing (WES)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Surdez / Perda Auditiva / Perda Auditiva Neurossensorial Limite: Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2024 Tipo de documento: Article

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