Mutation in gap and tight junctions in patients with non-syndromic hearing loss
| Autor: | Imen Ben Rebeh, Imed Lahmar, Hanen Belguith, Hammadi Ayadi, Houria Dhouib, Abdelmonem Ghorbel, Ilhem Charfeddine, Nabil Driss, Saber Masmoudi, Abedelaziz Tlili |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
Heterozygote
Tunisia Hearing loss DNA Mutational Analysis Biophysics Genes Recessive Biology Biochemistry Connexins Tight Junctions Polymorphism (computer science) Connexin 30 otorhinolaryngologic diseases medicine Humans In patient Hearing Loss Molecular Biology Gene Genetics Polymorphism Genetic Tight junction Gap Junctions Membrane Proteins Cell Biology Phenotype Molecular biology Pedigree Connexin 26 Claudins Mutation Mutation (genetic algorithm) biology.protein medicine.symptom GJB6 |
| Zdroj: | Biochemical and Biophysical Research Communications. 385:1-5 |
| ISSN: | 0006-291X |
| Popis: | Biallelic mutations in the GJB2, GJB3, GJB6 and CLDN14 genes have been implicated in autosomal recessive non-syndromic hearing impairment (ARNSHI). Moreover, a large number of GJB2 heterozygous patients was reported. The phenotype was in partly justified by the occurrence of two deletions including GJB6. We analysed GJB2, GJB6, GJB3 and CLDN14 in 102 Tunisian patients with ARNSHI. The deletions del(GJB6-D13S1830) and del(GJB6-D13S1854) were also screened. The c.35delG in GJB2 was the most frequent mutation (21.57%). It was detected at heterozygous state in 2 patients. The del(GJB6-D13S1830) was identified in one case at heterozygous state. No other mutation in studied gap junction genes was detected in heterozygous patients. Several polymorphisms were identified in GJB3, GJB6 and CLDN14. Our study confirms the importance of GJB2 screening in ARNSHI and suggests that in consanguineous populations, a single DFNB1 mutant allele in individuals with HI is likely due to a coincidental carrier state. |
| Databáze: | OpenAIRE |
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