Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families

BMC Medical Genetics
Yingjie ZhouShahid Mahmood Baig

Abstract

Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50-60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 genes have been reported to cause non-syndromic hearing loss. It is possible and efficient to screen all potential disease-causing genes for hereditary hearing loss by whole exome sequencing (WES). We collected 5 consanguineous pedigrees from Pakistan with hearing loss and applied WES in selected patients for each pedigree, followed by bioinformatics analysis and Sanger validation to identify the causal genes. Variants in 7 genes were identified and validated in these pedigrees. We identified single candidate variant for 3 pedigrees: GIPC3 (c.937 T > C), LOXHD1 (c.6136G > A) and TMPRSS3 (c.941 T > C). The remaining 2 pedigrees each contained two candidate variants: TECTA (c.4045G > A) and MYO15A (c.3310G > T and c.9913G > C) for one pedigree and DFNB59 (c.494G > A) and TRIOBP (c.1952C > T) for the other pedigree. The candidate variants were validated in all available samples by Sanger sequencing. The candidate variants in hearing-loss genes were validated to be co-segregated in the pedigrees, and they may indicate the aetiolog...Continue Reading

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Methods Mentioned

BETA
exome sequencing
PCR

Software Mentioned

- MEM
BWA
MutationTaster
ClinVar
Genome Analysis Tool Kit ( GATK
PolyPhen2
SOAPnuke Aligner (

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