From: High-throughput sequencing to decipher the genetic heterogeneity of deafness
Locus and inheritance | Individuals sequenced | Targeted regions | Whole exome region analyzed by bioinformatics | Novel discoveries | Reference |
---|---|---|---|---|---|
DFNB79 | One | 2.9 Mb, chromosome 9q34.3 | Â | TPRN | Rehman et al. [26] |
DFNB82 | One | Whole exome | 3.1 Mb, 1p13.3 | GPSM2 | Walsh et al. [29] |
Syndromic (Perrault syndrome) | One | Whole exome | Â | HSD17B4/DBP | Pierce et al. [40] |
Syndromic (3MC) | One | Whole exome | 1.81 Mb, 3q27 | MASP1 | Sirmaci et al. [41] |
Dominant and recessive NSHL | Nine | 54 known deafness genes, exons | Â | Three novel mutations in known deafness genes | Shearer et al. [25] |
DFNA4 | One | Whole exome | 20 Mb, 19q12-13.4 | CEACAM16 | Zheng et al. [42] |
Syndromic (Perrault syndrome) | One | 4.142-Mb linkage region, chromosome 5q31 | Â | HARS2 | Pierce et al. [43] |
DFNX4 | One | X chromosome | 12.9 Mb, Xp22 | SMPX | Schraders et al. [31] |
DFNX4 | Two brothers | 88 genes, exons, 1 kb promoter regions, 17.5 Mb region, chromosome Xp22.12 | 17.5 Mb, Xp22.12 | SMPX | Huebner et al. [32] |
Syndromic (HSAN1) | One | Whole exome | 3.4 Mb, 19p13.2 | DNMT1 | Klein et al. [44] |
Dominant and recessive NSHL | 11 unrelated | 246 genes responsible for deafness in humans and mice, exons and 40 bp flanking introns | Â | Four novel mutations in known deafness genes | Brownstein et al. [19] |
Mitochondrial (OXPHOS disease) | One | 1,034 nuclear genes encoding mitochondrial proteins, entire mtDNA and exons | Â | None | Calvo et al. [45] |
Recessive NSHL | One | Whole exome | 36.9 Mb, chromosomes 8, 15, 16, 19, 21 | Mutation in known deafness gene | Sirmaci et al. [30] |
Syndromic (ADCA-DN) | Five | Whole exome | Â | Mutation in known deafness gene | Winkelmann et al. [46] |