title: Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.
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.
authors.affiliation: Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy; Department of Soil, Plant and Food Sciences, University of Bari Aldo Moro, 70126 Bari, Italy.
authors.forename: Maria Pia
authors.initials: MP
authors.lastname: Leone
authors.affiliation: Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
authors.forename: Pietro
authors.initials: P
authors.lastname: Palumbo
authors.affiliation: Oto-Rhino-Laryngology Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
authors.forename: Rocco
authors.initials: R
authors.lastname: Ortore
authors.affiliation: Bioinformatics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Castellana
authors.affiliation: Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
authors.forename: Orazio
authors.initials: O
authors.lastname: Palumbo
authors.affiliation: Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Melchionda
authors.affiliation: Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
authors.forename: Teresa
authors.initials: T
authors.lastname: Palladino
authors.affiliation: Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Stallone
authors.affiliation: Bioinformatics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
authors.forename: Tommaso
authors.initials: T
authors.lastname: Mazza
authors.affiliation: Oto-Rhino-Laryngology Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Cocchi
authors.affiliation: Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy. Electronic address: m.carella@operapadrepio.it.
authors.forename: Massimo
authors.initials: M
authors.lastname: Carella
mesh_terms: D000293:Adolescent; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012697:Serine Endopeptidases / Q000235:genetics*; D035781:Siblings
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D000072259:Connexin 26; D012697:Serine Endopeptidases; C409042:TMPRSS3 protein, human
keywords: Digenic inheritance; Hearing loss; Targeted resequencing