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

Moza K. Al-Kowari, G. Girotto, K. Abdulhadi, S. Dipresa, R. Siam, N. Najjar, R. Badii, P. Gasparini

Research output: Contribution to journalArticle

18 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)181-185
Number of pages5
JournalInternational Journal of Audiology
Volume51
Issue number3
DOIs
Publication statusPublished - 1 Mar 2012

Fingerprint

Mitochondrial Genes
Qatar
Mutation
cause
Sequence Deletion
Population
Inheritance Patterns
Sensorineural Hearing Loss
Alleles
Nonsyndromic Deafness
Causes
Gene
Hearing Impairment
Genes

Keywords

  • Aging
  • Audiology
  • Demographics/epidemiology
  • Hearing aids
  • Simddle ear
  • Syndromes/genetics

ASJC Scopus subject areas

  • Speech and Hearing
  • Language and Linguistics
  • Linguistics and Language

Cite this

GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population. / Al-Kowari, Moza K.; Girotto, G.; Abdulhadi, K.; Dipresa, S.; Siam, R.; Najjar, N.; Badii, R.; Gasparini, P.

In: International Journal of Audiology, Vol. 51, No. 3, 01.03.2012, p. 181-185.

Research output: Contribution to journalArticle

Al-Kowari, Moza K. ; Girotto, G. ; Abdulhadi, K. ; Dipresa, S. ; Siam, R. ; Najjar, N. ; Badii, R. ; Gasparini, P. / GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population. In: International Journal of Audiology. 2012 ; Vol. 51, No. 3. pp. 181-185.
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