Identification of MYO6 copy number variation associated with cochlear aplasia by targeted sequencing.
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 622.2â¯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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteoglicanas
/
Doenças Cocleares
/
Proteínas da Matriz Extracelular
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Cadeias Pesadas de Miosina
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Duplicação Gênica
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Proteínas do Olho
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Variações do Número de Cópias de DNA
/
Perda Auditiva Neurossensorial
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Female
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Humans
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Newborn
Idioma:
En
Revista:
Int J Pediatr Otorhinolaryngol
Ano de publicação:
2020
Tipo de documento:
Article