Abstract
The paper describes a putative digenic form of deafness in two siblings affected by non-syndromic hereditary hearing loss, detected by a Targeted resequencing approach. Given that a previous paper suggested TMPRSS3 and GJB2 genes as responsible for a digenic form of hearing loss, our data support and reinforce this hypothesis.
Keywords:
Digenic inheritance; Hearing loss; Targeted resequencing.
Copyright © 2017 Elsevier Ltd. All rights reserved.
MeSH terms
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Adolescent
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Child
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Connexin 26
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Connexins / genetics*
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Female
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Genetic Predisposition to Disease*
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Hearing Loss, Sensorineural / genetics*
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Hearing Loss, Sensorineural / physiopathology
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Heterozygote
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Humans
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Male
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Membrane Proteins / genetics*
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Mutation
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Neoplasm Proteins / genetics*
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Sequence Analysis, DNA
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Serine Endopeptidases / genetics*
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Siblings
Substances
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Connexins
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GJB2 protein, human
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Membrane Proteins
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Neoplasm Proteins
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Connexin 26
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Serine Endopeptidases
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TMPRSS3 protein, human