Connexin 26 gene mutations in non-syndromic hearing loss among Kuwaiti patients.

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.

• 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)
• Copyright: © 2013 S. Karger AG, Basel

Chemical References

• Connexins
• GJB2 protein, human
• Connexin 26

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