Table 1.
Summary of mutations in various known deafness genes identified in ARNSHL patients from Saudi Arabia.
| FAMILY/SIBSHIPS | MODE OF ANALYSIS | REGION OF INTEREST | GENE OF INTEREST | NUCLEOTIDE CHANGE | PROTEIN CHANGE | REFERENCE |
|---|---|---|---|---|---|---|
| NSHD28/69 | DFNB1 SCREENING | NA | GJB2 | c.35delG | Frameshift | [10] |
| NSHD74 | DFNB1 SCREENING | NA | GJB2 | 95 G>A | p.R32H | [11] |
| KT7 | DFNB1 SCREENING | NA | GJB2 | c.229T>C | p.W77R | [12] |
| SS16 | Linkage (LOD SCORE) |
Chr 17p12-q11.2 | MYO15A | c.1047C>A | p.Y349X | This study |
| KT1 | Linkage (LOD SCORE) |
Chr 21q22.2-q22.3 | TMPRSS3 | IVS12-1 g>c | Splicing error | This study |
| TA12 | Homozygosity (GT console) | Chr 5q11.2-q13.3 | TRIC | c.1498C>T | p.R500X | [13] |
| SS3 | Homozygosity (GT console) | Chr 6p24.3-p12.3 | LHFPL5 | c.1A>G | p.M1V | [8] |
| SS17 | Homozygosity (CNAG) | Chr 9p13.3-q21.13 | TMC1 | c.100C>T | p.R34X | [14] |