{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1361699995113576192.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1002/mgg3.131"}},{"identifier":{"@type":"URI","@value":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.131"}},{"identifier":{"@type":"URI","@value":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.131"}},{"identifier":{"@type":"URI","@value":"https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.131"}}],"dc:title":[{"@value":"Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:title>Abstract</jats:title><jats:p>The genetic heterogeneity of congenital hearing disorders makes molecular diagnosis expensive and time‐consuming using conventional techniques such as Sanger sequencing of DNA. In order to design an appropriate strategy of molecular diagnosis in the Algerian population, we explored the diversity of the involved mutations by studying 65 families affected by autosomal recessive forms of nonsyndromic hearing impairment (DFNB forms), which are the most prevalent early onset forms. We first carried out a systematic screening for mutations in <jats:italic>GJB2</jats:italic> and the recurrent p.(Arg34*) mutation in <jats:italic>TMC1</jats:italic>, which were found in 31 (47.7%) families and 1 (1.5%) family, respectively. We then performed whole exome sequencing in nine of the remaining families, and identified the causative mutations in all the patients analyzed, either in the homozygous state (eight families) or in the compound heterozygous state (one family): (c.709C>T: p.(Arg237*)) and (c.2122C>T: p.(Arg708*)) in <jats:italic>OTOF</jats:italic>, (c.1334T>G: p.(Leu445Trp)) in <jats:italic>SLC26A4</jats:italic>, (c.764T>A: p.(Met255Lys)) in <jats:italic>GIPC3</jats:italic>, (c.518T>A: p.(Cys173Ser)) in <jats:italic>LHFPL5</jats:italic>, (c.5336T>C: p.(Leu1779Pro)) in <jats:italic>MYO15A</jats:italic>, (c.1807G>T: p.(Val603Phe)) in <jats:italic>OTOA</jats:italic>, (c.6080dup: p.(Asn2027Lys*9)) in <jats:italic>PTPRQ</jats:italic>, and (c.6017del: p.(Gly2006Alafs*13); c.7188_7189ins14: p.(Val2397Leufs*2)) in <jats:italic>GPR98</jats:italic>. Notably, 7 of these 10 mutations affecting 8 different genes had not been reported previously. These results highlight for the first time the genetic heterogeneity of the early onset forms of nonsyndromic deafness in Algerian families.</jats:p>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1381699995113576199","@type":"Researcher","foaf:name":[{"@value":"Fatima Ammar‐Khodja"}],"jpcoar:affiliationName":[{"@value":"Equipe de Génétique, Laboratoire de Biologie Moléculaire Faculté des Sciences Biologiques Université des Sciences et de la Technologie Houari Boumédiène (USTHB) Alger Algeria"}]},{"@id":"https://cir.nii.ac.jp/crid/1381699995113576194","@type":"Researcher","foaf:name":[{"@value":"Crystel Bonnet"}],"jpcoar:affiliationName":[{"@value":"Institut de la Vision UMRS 1120 INSERM/UPMC/Institut Pasteur Paris France"}]},{"@id":"https://cir.nii.ac.jp/crid/1381699995113576198","@type":"Researcher","foaf:name":[{"@value":"Malika Dahmani"}],"jpcoar:affiliationName":[{"@value":"Equipe de Génétique, Laboratoire de Biologie Moléculaire Faculté des Sciences Biologiques Université des Sciences et de la Technologie Houari Boumédiène (USTHB) Alger Algeria"}]},{"@id":"https://cir.nii.ac.jp/crid/1381699995113576196","@type":"Researcher","foaf:name":[{"@value":"Gaelle M. Lefèvre"}],"jpcoar:affiliationName":[{"@value":"Institut de la Vision UMRS 1120 INSERM/UPMC/Institut Pasteur Paris France"}]},{"@id":"https://cir.nii.ac.jp/crid/1381699995113576192","@type":"Researcher","foaf:name":[{"@value":"Hassina Ibrahim"}],"jpcoar:affiliationName":[{"@value":"Service d'Otorhinolaryngologie (ORL) Hôpital Mustapha Pacha Alger Algeria"}]},{"@id":"https://cir.nii.ac.jp/crid/1381699995113576193","@type":"Researcher","foaf:name":[{"@value":"Sofiane Ouhab"}],"jpcoar:affiliationName":[{"@value":"Service d'Otorhinolaryngologie (ORL) Hôpital de Kouba‐Bachir Mentouri Alger Algeria"}]},{"@id":"https://cir.nii.ac.jp/crid/1381699995113576200","@type":"Researcher","foaf:name":[{"@value":"Dominique Weil"}],"jpcoar:affiliationName":[{"@value":"Institut Pasteur Unité de Génétique et Physiologie de l'Audition UMRS 1120 INSERM/UPMC Paris 6 Paris France"}]},{"@id":"https://cir.nii.ac.jp/crid/1381699995113576201","@type":"Researcher","foaf:name":[{"@value":"Malek Louha"}],"jpcoar:affiliationName":[{"@value":"Service de Biochimie Hôpital Armand Trousseau UMRS 1120 INSERM Paris France"}]},{"@id":"https://cir.nii.ac.jp/crid/1381699995113576197","@type":"Researcher","foaf:name":[{"@value":"Jean‐Pierre Hardelin"}],"jpcoar:affiliationName":[{"@value":"Institut Pasteur Unité de Génétique et Physiologie de l'Audition UMRS 1120 INSERM/UPMC Paris 6 Paris France"}]},{"@id":"https://cir.nii.ac.jp/crid/1381699995113576195","@type":"Researcher","foaf:name":[{"@value":"Christine Petit"}],"jpcoar:affiliationName":[{"@value":"Institut de la Vision UMRS 1120 INSERM/UPMC/Institut Pasteur Paris France"},{"@value":"Institut Pasteur Unité de Génétique et Physiologie de l'Audition UMRS 1120 INSERM/UPMC Paris 6 Paris France"},{"@value":"Collège de France Paris France"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"23249269"},{"@type":"EISSN","@value":"23249269"}],"prism:publicationName":[{"@value":"Molecular Genetics & Genomic Medicine"}],"dc:publisher":[{"@value":"Wiley"}],"prism:publicationDate":"2015-02-15","prism:volume":"3","prism:number":"3","prism:startingPage":"189","prism:endingPage":"196"},"reviewed":"false","dc:rights":["http://creativecommons.org/licenses/by/4.0/"],"url":[{"@id":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.131"},{"@id":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.131"},{"@id":"https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.131"}],"createdAt":"2015-02-15","modifiedAt":"2023-10-03","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360287219276790656","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss"}]},{"@id":"https://cir.nii.ac.jp/crid/1360865816795354624","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1002/mgg3.131"},{"@type":"CROSSREF","@value":"10.3390/genes10090715_references_DOI_THNryCtbONxCCGktlSB2msli0q9"},{"@type":"CROSSREF","@value":"10.3390/genes15040489_references_DOI_THNryCtbONxCCGktlSB2msli0q9"}]}