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- Title
Connexin 26 Gene Mutations in Non-Syndromic Hearing Loss Among Kuwaiti Patients.
- Authors
Al-Sebeih, Khalid; Al-Kandari, Marium; Al-Awadi, Sadika A.; Hegazy, Fatma F.; Al-Khamees, Ghada A.; Naguib, Kamal K.; Al-Dabbous, Reem M.
- Abstract
Objective: To study connexin 26 (Cx26) gene mutations among autosomal recessive non-syndromal hearing loss in Kuwaiti patients and evaluate their effect on phenotypes. Subjects and Methods: This cross sectional study included 100 patients aged between 6 months and 18 years, who were referred to the Sheikh Salem Al-Ali Centre for audiology and speech evaluation of autosomal recessive non-syndromic sensorineural hearing loss confirmed by clinico-genetic evaluation and a battery of diagnostic tests. Gene profiling and sequencing were performed to detect the presence and nature of Cx26 mutation. Results: Of the 100 patients, mutation of Cx26 gene was detected in 15 patients (15%) of which 9 (60%) cases were heterozygous and 6 cases (40%) were homozygous. Eighty per cent of the 15 Cx26 positive cases resulted from the 35delG mutation. Among the heterozygous cases, 6 (66.6%) were positive for 35delG. All 6 homozygous patients were positive for the 35delG mutation. A significant correlation was found between genetic findings (p = 0.013) and family history (p = 0.029), as well as the onset (p = 0.015), course (p = 0.033), degree and configuration of hearing loss (p = 0.001). Conclusion: Among the selected Kuwaiti population sample, the Cx26 gene mutation was responsible for 15% of autosomal recessive non-syndromic sensorineural hearing loss. We recommend that screening for Cx26 gene mutation be considered in the screening strategy of patients with non-syndromic childhood hearing loss for counselling and management purposes. © 2013 S. Karger AG, Basel
- Subjects
CONNEXINS; GENETIC mutation; GENETICS of deafness; HUMAN phenotype; GENETIC testing; NUCLEOTIDE sequence
- Publication
Medical Principles & Practice, 2013, Vol 23, Issue 1, p74
- ISSN
1011-7571
- Publication type
Article
- DOI
10.1159/000348304