PMID: 15219044Jun 29, 2004Paper

Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele

Acta Oto-laryngologica. Supplementum
E GualandiE Calzolari

Abstract

Molecular screening for GJB2 (connexin 26) mutations represents the standard diagnostic approach for the genotype definition of non-syndromic deafness. Nevertheless, a single GJB2 pathogenic mutation is detectable in a relevant number of cases, therefore failing to explain the phenotype. We aimed at assessing the occurrence of the recently described del(GIB6-D13S1830) mutation, occurring in the connexin 30 gene, in a group of Italian hearing-impaired patients carrying a single GJB2 mutated allele. A total of 59 non-syndromic hearing loss (NSHL) patients were screened for GJB2 mutations. Among these, nine NSHL patients were found to be heterozygous for a single GJB2 mutation. These patients, heterozygotes for different GJB2 mutated alleles (35delG, L90P, M34T, V153I), together with 11 additional 35delG/neg cases previously described, were studied for the presence of the del(GIB6-D13S1830) mutation. Two double heterozygotes del(GIB6-D13S1830)/35delG were identified. In both cases the degree of hearing loss was profound. Furthermore, GJB2 molecular screening led to the identification of a novel change (T55G) occurring in compound heterozygosity with the V37I mutation. In conclusion, our data suggest a significant frequency of del(...Continue Reading

Citations

Feb 7, 2009·Journal of Human Genetics·Xiao Mei OuyangXue Zhong Liu
Jul 17, 2009·The Journal of the Acoustical Society of America·James J FinneranRobert G Lingenfelser
Aug 1, 2008·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Pasqualina M PicciottiMaria Grazia Pomponi
Jun 12, 2013·International Journal of Pediatric Otorhinolaryngology·T VoloA Martini
Dec 22, 2009·International Journal of Pediatric Otorhinolaryngology·Luis Pablo GravinaLilien Chertkoff
Mar 3, 2007·Seminars in Pediatric Neurology·Andrea L Gropman, David R Adams
Mar 27, 2018·American Journal of Medical Genetics. Part a·Desiree DeMilleJohn C Carey
Mar 8, 2008·American Journal of Medical Genetics. Part a·Hsiao-Yuan TangRaye Lynn Alford

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