Genetics of hearing loss in the Arab population of Northern Israel

European Journal of Human Genetics : EJHG
Nada Danial-FarranStavit Shalev

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 eac...Continue Reading

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Citations

Feb 13, 2020·Molecular Genetics & Genomic Medicine·Di WuLuping Zhang
Jan 14, 2021·PloS One·Aastha VatsyayanVinod Scaria
May 15, 2021·Scientific Reports·Dominika OziębłoMonika Ołdak

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Methods Mentioned

BETA
PCR
transfection
electrophoresis

Software Mentioned

Analyzer Splice Tool
Mapa GISrael
Splice site finder
Gene splicer
GeneSplicer
Alamut
Max
MaxEntScan
Splice Site Prediction
Seq

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