title: A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.
abstract: Congenital deafness is certainly one of the most common monogenic diseases in humans, but it is also one of the most genetically heterogeneous, which makes molecular diagnosis challenging in most cases. Whole-exome sequencing in two out of three Algerian siblings affected by recessively-inherited, moderate to severe sensorineural deafness allowed us to identify a novel splice donor site mutation (c.5272+1G > A) in the gene encoding α-tectorin, a major component of the cochlear tectorial membrane. The mutation was present at the homozygous state in the three affected siblings, and at the heterozygous state in their unaffected, consanguineous parents. To our knowledge, this is the first reported TECTA mutation leading to the DFNB21 form of hearing impairment among Maghrebian individuals suffering from congenital hearing impairment, which further illustrates the diversity of the genes involved in congenital deafness in the Maghreb.
authors.affiliation: Département de Biologie et Physiologie des Organismes, Faculté des sciences biologiques, Université des sciences et de la technologie Houari Boumédiène, El Alia, Bab-Ezzouar, Alger, Algeria; Laboratoire de Biochimie Génétique, Université Alger 1, Algeria.
authors.forename: Asma
authors.initials: A
authors.lastname: Behlouli
authors.affiliation: INSERM UMRS1120, Sorbonne Universités, UPMC Université Paris 06, Institut de la Vision, Paris, France.
authors.forename: Crystel
authors.initials: C
authors.lastname: Bonnet
authors.affiliation: Laboratoire de Biochimie Génétique, Université Alger 1, Algeria; Laboratoire central de biologie, CHU Frantz Fanon, Faculté de médecine, Université Saad Dahleb, Blida, Algeria.
authors.forename: Samia
authors.initials: S
authors.lastname: Abdi
authors.affiliation: Service ORL, Unité Belloua, Centre Hospitalier Universitaire Mohamed Nedir, Tizi Ouzou, Algeria.
authors.forename: Mokhtar
authors.initials: M
authors.lastname: Hasbellaoui
authors.affiliation: Service ORL, Unité Belloua, Centre Hospitalier Universitaire Mohamed Nedir, Tizi Ouzou, Algeria.
authors.forename: Farid
authors.initials: F
authors.lastname: Boudjenah
authors.affiliation: Unité de Génétique et Physiologie de l'Audition, INSERM UMRS1120, Institut Pasteur, Paris, France.
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Hardelin
authors.affiliation: Service de Biochimie et de Biologie Moléculaire, Hôpital Armand Trousseau, APHP, Paris, France.
authors.forename: Malek
authors.initials: M
authors.lastname: Louha
authors.affiliation: Laboratoire de Biochimie Génétique, Université Alger 1, Algeria; Service de Biologie -CHU de Bab El Oued, Alger, Algeria.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Makrelouf
authors.affiliation: Département de Biologie et Physiologie des Organismes, Faculté des sciences biologiques, Université des sciences et de la technologie Houari Boumédiène, El Alia, Bab-Ezzouar, Alger, Algeria.
authors.forename: Fatima
authors.initials: F
authors.lastname: Ammar-Khodja
authors.affiliation: Laboratoire de Biochimie Génétique, Université Alger 1, Algeria; Service de Biologie -CHU de Bab El Oued, Alger, Algeria.
authors.forename: Akila
authors.initials: A
authors.lastname: Zenati
authors.affiliation: INSERM UMRS1120, Sorbonne Universités, UPMC Université Paris 06, Institut de la Vision, Paris, France; Unité de Génétique et Physiologie de l'Audition, INSERM UMRS1120, Institut Pasteur, Paris, France; Collège de France, Paris, France. Electronic address: christine.petit@pasteur.fr.
authors.forename: Christine
authors.initials: C
authors.lastname: Petit
mesh_terms: D000462:Algeria; D000483:Alleles; D002648:Child; D003241:Consanguinity; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D058851:GPI-Linked Proteins / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D022821:RNA Splice Sites
chemical_list: D016326:Extracellular Matrix Proteins; D058851:GPI-Linked Proteins; D022821:RNA Splice Sites; C491350:TECTA protein, human
keywords: Algeria; Congenital deafness; Whole exome sequencing