Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss.
Gene
; 705: 109-112, 2019 Jul 15.
Article
em En
| MEDLINE
| ID: mdl-31028865
ABSTRACT
Variants of KCNQ4 are one of the most common causes of dominantly inherited nonsyndromic hearing loss. We investigated a consanguineous family in which two individuals had prelignual hearing loss, apparently inherited in a recessive mode. Whole-exome sequencing analyses demonstrated genetic heterogeneity as variants in two different genes segregated with the phenotype in two branches of the family. Members in one branch were homozygous for a pathogenic variant of TMC1. The other two affected individuals were homozygous for a missense pathogenic variant in KCNQ4 c.872C>T; p.(Pro291Leu). These two individuals had prelingual, progressive moderate to severe hearing loss, while a heterozygous carrier had late onset mild hearing loss. Our work demonstrates that p.Pro291L variant is semi-dominantly inherited. This is the first report of semi-dominance of a KCNQ4 variant.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Mutação de Sentido Incorreto
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Surdez
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Canais de Potássio KCNQ
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Sequenciamento do Exoma
Limite:
Female
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Humans
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Male
Idioma:
En
Revista:
Gene
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Paquistão