Consanguinity and hereditary hearing loss in Qatar

Area of Science:

• Genetics
• Otolaryngology
• Population Health

Background:

• Consanguineous marriages are prevalent in Qatar, increasing the risk of inherited diseases.
• Hereditary hearing loss (HHL) affects 5.2% of the population, with higher consanguinity rates in affected individuals.
• Previous studies indicated high homogeneity and inbreeding in Qatari HHL patients.

Purpose of the Study:

• To review the current understanding of hereditary hearing loss in Qatar.
• To explore the genetic heterogeneity of HHL in the Qatari population.
• To assess the impact of consanguinity on HHL prevalence and genetics.

Main Methods:

• Literature review of genetic studies on hereditary hearing loss in Qatar.
• Analysis of molecular data on gene mutations associated with HHL in Qatari patients.
• Comparison of genetic findings with global data on HHL causes.

Main Results:

• The GJB2 gene, a common cause of HHL globally, accounts for a small proportion of cases in Qatar.
• At least three additional genes are implicated in Qatari HHL, with BDP1 mutations found exclusively in this population.
• Despite high inbreeding levels, a significant genetic heterogeneity in HHL is observed.

Conclusions:

• Hereditary hearing loss in Qatar presents a complex genetic landscape.
• Consanguinity contributes to HHL risk, but unique genetic factors are also significant.
• Further research is needed to fully elucidate the genetic basis of HHL in Qatar.