title: Consanguinity and hereditary hearing loss in Qatar.
abstract: Qatar is a sovereign state located on the Eastern coast of the Arabian Peninsula in the Persian Gulf. Its native population consists of 3 major subgroups: people of Arabian origin or Bedouins, those from an Eastern or Persian ancestry and individuals with African admixture. Historically, all types of consanguineous marriages have been and still are common in the Qatari population, particularly among first and double-first cousins. Thus, there is a higher risk for most inherited diseases including hereditary hearing loss (HHL). In particular, a hearing loss prevalence of 5.2% has been reported in Qatar, with parental consanguinity being more common among affected individuals as compared with unaffected ones. Our recent molecular results confirm a high homogeneity and level of inbreeding in Qatari HHL patients. Among all HHL genes, GJB2, the major player worldwide, accounts for a minor proportion of cases and at least 3 additional genes have been found to be mutated in Qatari patients. Interestingly, one gene, BDP1, has been described to cause HHL only in this country. These results point towards an unexpected level of genetic heterogeneity despite the high level of inbreeding. This review provides an up-to-date picture of HHL in Qatar and of the impact of consanguinity on this disease.
authors: Department of Medical Sciences, University of Trieste, Trieste, Italy.
authors: Giorgia
authors: G
authors: Girotto
authors: Massimo
authors: M
authors: Mezzavilla
authors: Khalid
authors: K
authors: Abdulhadi
authors: Dragana
authors: D
authors: Vuckovic
authors: Diego
authors: D
authors: Vozzi
authors: Moza
authors: M
authors: Khalifa Alkowari
authors: Paolo
authors: P
authors: Gasparini
authors: Ramin
authors: R
authors: Badii
mesh_terms: D000072259:Connexin 26; D017630:Connexins; D003241:Consanguinity; D034381:Hearing Loss / Q000453:epidemiology* / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D010375:Pedigree; D015995:Prevalence; D025341:Principal Component Analysis; D011780:Qatar / Q000453:epidemiology; D035361:Transcription Factor TFIIIB / Q000235:genetics
chemical_list: C427472:BDP1 protein, human; D017630:Connexins; C000607042:GJB2 protein, human; D035361:Transcription Factor TFIIIB; D000072259:Connexin 26