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.
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Authors | Khalid Al-Sebeih, Marium Al-Kandari, Sadika A Al-Awadi, Fatma F Hegazy, Ghada A Al-Khamees, Kamal K Naguib, Reem M Al-Dabbous |
Journal | Medical principles and practice : international journal of the Kuwait University, Health Science Centre
(Med Princ Pract)
Vol. 23
Issue 1
Pg. 74-9
( 2014)
ISSN: 1423-0151 [Electronic] Switzerland |
PMID | 24080506
(Publication Type: Journal Article)
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Copyright | © 2013 S. Karger AG, Basel |
Chemical References |
- Connexins
- GJB2 protein, human
- Connexin 26
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Topics |
- Child
- Child, Preschool
- Connexin 26
- Connexins
(genetics)
- Consanguinity
- Cross-Sectional Studies
- Female
- Hearing Loss, Sensorineural
(genetics)
- Heterozygote
- Humans
- Infant
- Male
- Mutation
- Polymerase Chain Reaction
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