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Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.
- Source :
-
International journal of audiology [Int J Audiol] 2009 Jan; Vol. 48 (1), pp. 12-7. - Publication Year :
- 2009
-
Abstract
- The aim of this study was to describe the clinical features of hearing loss due to mutations on connexin 26/30 coding genes (GJB2/GJB6). Mutations in the GJB2 gene are found to account for approximately 50% of cases of autosomal recessive non-syndromic deafness. Several European studies have estimated that the GJB2 healthy carrier condition involves about 2-4% of the population, with the 35delG mutations being the most common. A 342-kb deletion truncating the GJB6 gene (encoding connexin-30) has been associated with autosomal recessive non-syndromic deafness, mostly as digenic inheritance of the Cx30 deletion/Cx26 mutation. The following retrospective study describes audiological features and genotypes of a large cohort of 376 Italian hearing-impaired patients who underwent genetic screening for the GJB2/GJB6 genes and received follow-up care at our centre between January 2002 and October 2006. Sixteen different genotypes causing deafness in more than 27% of patients with either biallelic mutations or digenic inheritance GJB2/GJB6 were identified. The most frequent mutations were 35delG, M34T, L90P, and R184P.
- Subjects :
- Acoustic Impedance Tests
Adolescent
Adult
Aged
Alleles
Audiometry, Pure-Tone
Auditory Perception
Child
Child, Preschool
Cohort Studies
Connexin 26
Connexin 30
Disease Progression
Female
Genetic Predisposition to Disease
Hearing Loss, Sensorineural physiopathology
Heterozygote
Homozygote
Humans
Infant
Inheritance Patterns
Italy
Male
Middle Aged
Otoscopy
Phenotype
Reflex, Acoustic
Retrospective Studies
Young Adult
Connexins genetics
Hearing Loss, Sensorineural genetics
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 1708-8186
- Volume :
- 48
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- International journal of audiology
- Publication Type :
- Academic Journal
- Accession number :
- 19173109
- Full Text :
- https://doi.org/10.1080/14992020802400654