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Identification of MYO6 copy number variation associated with cochlear aplasia by targeted sequencing.
Sun, Lianhua; Wang, Xiaowen; Hou, Shule; Liang, Min; Yang, Jun.
Afiliação
  • Sun L; Department of Otorhinolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shan
  • Wang X; Department of Otorhinolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shan
  • Hou S; Department of Otorhinolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shan
  • Liang M; Department of Otorhinolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shan
  • Yang J; Department of Otorhinolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shan
Int J Pediatr Otorhinolaryngol ; 128: 109689, 2020 Jan.
Article em En | MEDLINE | ID: mdl-31785455
ABSTRACT
Copy number variation is an extensively studied cause of hereditary diseases. However, its role in hereditary sensorineural deafness has been rarely reported. Using targeted sequencing, SNP array and qPCR, we found a novel 622.2 kb duplication of 6q14.1 in a patient with congenital sensorineural hearing loss and cochlear aplasia. The duplication included MYO6 and IMPG1 genes. FISH study confirmed that this duplication was inherited from the patient's mosaic mother.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteoglicanas / Doenças Cocleares / Proteínas da Matriz Extracelular / Cadeias Pesadas de Miosina / Duplicação Gênica / Proteínas do Olho / Variações do Número de Cópias de DNA / Perda Auditiva Neurossensorial Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Newborn Idioma: En Revista: Int J Pediatr Otorhinolaryngol Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteoglicanas / Doenças Cocleares / Proteínas da Matriz Extracelular / Cadeias Pesadas de Miosina / Duplicação Gênica / Proteínas do Olho / Variações do Número de Cópias de DNA / Perda Auditiva Neurossensorial Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Newborn Idioma: En Revista: Int J Pediatr Otorhinolaryngol Ano de publicação: 2020 Tipo de documento: Article