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.
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Authors | Elona Cama, Salvatore Melchionda, Teresa Palladino, Massimo Carella, Rosamaria Santarelli, Elisabetta Genovese, Filippo Benettazzo, Leopoldo Zelante, Edoardo Arslan |
Journal | International journal of audiology
(Int J Audiol)
Vol. 48
Issue 1
Pg. 12-7
(Jan 2009)
ISSN: 1708-8186 [Electronic] England |
PMID | 19173109
(Publication Type: Journal Article)
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Chemical References |
- Connexin 30
- Connexins
- GJB2 protein, human
- GJB6 protein, human
- Connexin 26
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Topics |
- Acoustic Impedance Tests
- Adolescent
- Adult
- Aged
- Alleles
- Audiometry, Pure-Tone
- Auditory Perception
- Child
- Child, Preschool
- Cohort Studies
- Connexin 26
- Connexin 30
- Connexins
(genetics)
- Disease Progression
- Female
- Genetic Predisposition to Disease
- Hearing Loss, Sensorineural
(genetics, physiopathology)
- Heterozygote
- Homozygote
- Humans
- Infant
- Inheritance Patterns
- Italy
- Male
- Middle Aged
- Mutation
- Otoscopy
- Phenotype
- Reflex, Acoustic
- Retrospective Studies
- Young Adult
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