Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing

Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing

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 an...

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Veröffentlicht in:Molecular and cellular probes 2017-06, Vol.33, p.24-27
Hauptverfasser: Leone, Maria Pia, Palumbo, Pietro, Ortore, Rocco, Castellana, Stefano, Palumbo, Orazio, Melchionda, Salvatore, Palladino, Teresa, Stallone, Raffaella, Mazza, Tommaso, Cocchi, Roberto, Carella, Massimo
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Child
Connexins - genetics
Digenic inheritance
Female
Genetic Predisposition to Disease
Hearing loss
Hearing Loss, Sensorineural - genetics
Hearing Loss, Sensorineural - physiopathology
Heterozygote
Humans
Male
Membrane Proteins - genetics
Mutation
Neoplasm Proteins - genetics
Sequence Analysis, DNA
Serine Endopeptidases - genetics
Siblings
Targeted resequencing
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Zusammenfassung: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. •HL: Hearing loss.•ARNSHL: Non-Syndromic Autosomal Recessive Hearing Loss.•SHL: Syndromic Hearing Loss.•NSHL: Non –Syndromic Hearing Loss.•DI: Digenic Inheritance.
ISSN:0890-8508
1096-1194
DOI:10.1016/j.mcp.2017.03.001