Consanguinity and hereditary hearing loss in Qatar

Giorgia Girotto, Massimo Mezzavilla, Khalid Abdulhadi, Dragana Vuckovic, Diego Vozzi, Moza Khalifa Alkowari, Paolo Gasparini, Ramin Badii

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)175-182
Number of pages8
JournalHuman Heredity
Issue number1-4
Publication statusPublished - 2014


  • Consanguinity
  • Genes
  • Hereditary hearing loss
  • Qatar

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)


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