Genes, Vol. 14, Pages 399: Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment

Genes, Vol. 14, Pages 399: Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment Genes doi: 10.3390/genes14020399 Authors: Elvis Twumasi Aboagye Samuel Mawuli Adadey Edmond Wonkam-Tingang Lucas Amenga-Etego Gordon A. Awandare Ambroise Wonkam The genetic etiology of non-syndromic hearing impairment (NSHI) is highly heterogeneous with over 124 distinct genes identified. The wide spectrum of implicated genes has challenged the implementation of molecular diagnosis with equal clinical validity in all settings. Differential frequencies of allelic variants in the most common NSHI causal gene, gap junction beta 2 (GJB2), has been described as stemming from the segregation of a founder variant and/or spontaneous germline variant hot spots. We aimed to systematically review the global distribution and provenance of founder variants associated with NSHI. The study protocol was registered on PROSPERO, the International Prospective Register of Systematic Reviews, with the registration number “CRD42020198573”. Data from 52 reports, involving 27,959 study participants from 24 countries, reporting 56 founder pathogenic or likely pathogenic (P/LP) variants in 14 genes (GJB2, GJB6, GSDME, TMC1, TMIE, TMPRSS3, KCNQ4, PJVK, OTOF, EYA4, MYO15A, PDZD7, CLDN14, and CDH23), were reviewed. Varied number short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) were used for haplotype analysis to identify th...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Systematic Review Source Type: research