GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population

Abstract

Objective: This study reports results from the first survey of the genetic causes of nonsyndromic sensorineural hearing loss (NSHHL) in the Qatari population. Design and Study samples: Data were collected from 126 Qatari patients (58 males and 68 females) belonging to inbred families (56%), showing an autosomal recessive pattern of inheritance (96%). Fifty-three patients were less than 10 years old, 55 in the age range of 10 to 20 years, while 18 were aged between 20 and 30 years. All subjects had moderate to severe sensorineural hearing loss and were screened for GJB2 mutations, GJB6 deletion, and for A1555G mitochondrial mutation. Results: Four patients were homozygous and one was heterozygous for c.35delG; five were homozygous for the IVS1 + 1G < A, and two were heterozygous for c.229 T > C. Only 8.3% of the pathogenic alleles were detected. No patients were positive for GJB6 deletion or for A1555G . Conclusions: These findings: (1) demonstrate that GJB2, GJB6 deletion and A1555G mutation account for a minor proportion of NSHHL in the Qatari population, (2) further strengthen the need to search for causative genes, (3) clearly contribute to establishing preventive strategies for NSHHL in Qatar and in the Gulf area.

Key Words::

• Demographics/epidemiology
• audiology
• syndromes/genetics
• aging
• hearing aids
• simddle ear

Acknowledgements

We gratefully acknowledge the Qatar National Research Fund for sponsoring this study through a grant from the National Priorities Research Program (NPRP 08-084-3-032, 2nd cycle). PG was also supported by Telethon Foundation (GGP09037). Ethical approval was obtained from the IRB board of Hamad Medical Corporation prior to the start of the study. We would also like to thank family members for their collaboration.

Declaration of interest: The authors declare no conflict of interest.