title: High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss.
abstract: Mutations in the GJB2 (Connexin 26) gene are responsible for more than half of all cases of prelingual, recessive, inherited, nonsyndromic deafness in Europe. This paper presents a mutation analysis of the GJB2 and GJB6 (Connexin 30) genes in 30 Greek Cypriot patients with sensorineural nonsyndromic hearing loss compatible with recessive inheritance. Ten of the patients (33.3%) had the 35delG mutation in the GJB2 gene. Moreover, 9 of these were homozygous for the 35delG mutation, whereas 1 patient was in the compound heterozygous state with the disease causing E47X nonsense mutation. Another patient with severe sensorineural hearing loss was heterozygous for the V153I missense mutation. Finally, no GJB6 mutations or the known del(GJB6-D13S1830) were identified in any of the investigated Greek Cypriot nonsyndromic hearing loss patients. This work confirms that the GJB2 35delG mutation is an important pathogenic mutation for hearing loss in the Greek Cypriot population. This finding will be used toward the effective diagnosis of nonsyndromic hearing loss, improve genetic counseling, and serve as a potential therapeutic platform in the future for the affected patients in Cyprus.
authors.affiliation: Department of Molecular Genetics, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus.
authors.forename: Vassos
authors.initials: V
authors.lastname: Neocleous
authors.forename: Andreas
authors.initials: A
authors.lastname: Aspris
authors.forename: Vasken
authors.initials: V
authors.lastname: Shahpenterian
authors.forename: Vassos
authors.initials: V
authors.lastname: Nicolaou
authors.forename: Charalambos
authors.initials: C
authors.lastname: Panagi
authors.forename: Ioannis
authors.initials: I
authors.lastname: Ioannou
authors.forename: Yiannis
authors.initials: Y
authors.lastname: Kyamides
authors.forename: Violetta
authors.initials: V
authors.lastname: Anastasiadou
authors.forename: Leonidas A
authors.initials: LA
authors.lastname: Phylactou
mesh_terms: D001483:Base Sequence; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003535:Cyprus; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D005787:Gene Frequency; D006115:Greece / Q000208:ethnology; D034381:Hearing Loss / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26