Dataset Information

Genetics of hearing loss in the Arab population of Northern Israel.

ABSTRACT: For multiple generations, much of the Arab population of Northern Israel has lived in communities with consanguineous marriages and large families. These communities have been particularly cooperative and informative for understanding the genetics of recessive traits. We studied the genetics of hearing loss in this population, evaluating 168 families from 46 different villages. All families were screened for founder variants by Sanger sequencing and 13 families were further evaluated by sequencing all known genes for hearing loss using our targeted gene panel HEar-Seq. Deafness in 34 of 168 families (20%) was explained by founder variants in GJB2, SLC26A4, or OTOF. In 6 of 13 families (46%) evaluated using HEar-Seq, deafness was explained by damaging alleles of SLC26A4, MYO15A, OTOG, LOXHD1, and TBC1D24. In some genes critical to hearing, it is particularly difficult to interpret variants that might affect splicing, because the genes are not expressed in accessible tissue. To address this problem for possible splice-altering variants of MYO15A, we evaluated minigenes transfected into HEK293 cells. Results revealed exon skipping in the message of MYO15A c.9083+6T>A, and intron retention in the message of MYO15A c.8340G>A, in each case leading to a premature stop and consistent with co-segregation of homozygosity for each variant with hearing loss. The profile of genetics of hearing loss in this population reflects the genetic heterogeneity of hearing loss and the usefulness of synthetic technologies to evaluate potentially causal variants in genes not expressed in accessible tissues.

SUBMITTER: Danial-Farran N

PROVIDER: S-EPMC6244407 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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Genetics of hearing loss in the Arab population of Northern Israel.

Danial-Farran Nada N Brownstein Zippora Z Gulsuner Suleyman S Tammer Luna L Khayat Morad M Aleme Ola O Chervinsky Elena E Zoubi Olfat Aboleile OA Walsh Tom T Ast Gil G King Mary-Claire MC Avraham Karen B KB Shalev Stavit A SA

European journal of human genetics : EJHG 20180823 12

For multiple generations, much of the Arab population of Northern Israel has lived in communities with consanguineous marriages and large families. These communities have been particularly cooperative and informative for understanding the genetics of recessive traits. We studied the genetics of hearing loss in this population, evaluating 168 families from 46 different villages. All families were screened for founder variants by Sanger sequencing and 13 families were further evaluated by sequenci ...[more]

PMID: 30139988

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Project description:BackgroundThe Arab Bedouin Muslim minority in Israel, is one of the country's most vulnerable groups. They are residents of the Israeli geographical and social periphery. Bedouin's healthcare service utilization is shaped by its sociocultural and environmental characteristics. This study explores healthcare access barriers and utilization patterns among the Arab Bedouin population, focusing on two types of legal status locality: a legally recognized Bedouin town and the surrounding unrecognized villages.MethodsWe conducted a cross-sectional study among Arab Bedouin adults (N = 246) residing in a Bedouin recognized town and unrecognized villages. Using an anonymous, self-administered questionnaire in Arabic. We collected information about healthcare visits, types of services accessed, access barriers and the factors influencing healthcare-seeking behavior. Multivariate linear regression was conducted to examine the predictors of healthcare services utilization.ResultsOf the 246 participants, 60% resided in a recognized Bedouin town and 40% resided in unrecognized villages. Most participants were female (61%) and the mean age was 37.8 ± 13.9 years. The findings showed that barriers to seeking care differed based on the residence town's legal status. While residents of unrecognized villages face significant physical access barriers, they also show a notable reliance on cross-border healthcare providers, particularly in the Palestinian Authority. Chronic medical conditions (B = 1.147, p < 0.001), gender (B = -0.459, p < 0.01), and parental status (B = 0.667, p = 0.001) have been identified as strong predictors of healthcare service utilization.ConclusionThis study offers new insights regarding the complexity of healthcare access and utilization in the Arab Bedouin population in Israel, emphasizing that barriers are not only structural but also deeply intertwined with cultural and linguistic factors. The study highlights the universal message of addressing both physical and systemic barriers to healthcare access, ensuring that healthcare services are culturally and linguistically tailored to the specific needs of marginalized populations locally and globally. These findings provide actionable insights for policymakers emphasizing the need to improve health equity by addressing the access barriers faced by the Arab Bedouin population, including structural, cultural, and linguistic challenges, and ensuring targeted interventions for marginalized communities both locally and globally.

Dataset Information

Genetics of hearing loss in the Arab population of Northern Israel.

Publications

Genetics of hearing loss in the Arab population of Northern Israel.

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