Table 2 Clinical features of probands and genotypes of known deafness genes
Family ID | Gene symbol | Disease | Reference mRNA | Genotype-nucleotide change | Predicted inheritance mode of family | Sex | Hearing levels (left/right) | Audiogram (L/R) |
|---|---|---|---|---|---|---|---|---|
1470 | MYO15A | DFNB3 | NM_016239.3 | c.[419delA];[1185dupC] | Sporadic | F | Severe/severe†| Flat/gently sloping†|
1540 | MYO15A | DFNB3 | NM_016239.3 | c.[419delA];[9938A>C] | Sporadic | F | Severe/profound | Gently sloping/gently sloping |
1479 | MYO15A | DFNB3 | NM_016239.3 | c.[8450G>C];[9690+1G>A] | Sporadic | M | Moderate | Flat |
1688 | MYO15A | DFNB3 | NM_016239.3 | c.[1185dupC];[8969delG] | Sporadic | F | Severe/severe | Sloping/sloping |
1644 | CDH23 | DFNB12/USH1D | NM_022124.5 | c.[719C>T];[805C>T] | Sporadic | M | Profound/profound†| Steep sloping/sloping†|
1528 | CDH23 | DFNB12/USH1D | NM_022124.5 | c.[719C>T];[7802T>C] | AR | M | Severe/severe | Steep sloping/steep sloping |
1397 | PDZD7 | DFNB57 | NM_001195263.1 | c.[490C>T];[503G>C] | AR | F | Moderate/moderate | Sloping/sloping |
1597 | PDZD7 | DFNB57 | NM_001195263.1 | c.[490C>T];[494G>C] | AR | F | Moderate/moderate | Sloping/gently sloping |
1648 | OTOF | DFNB9 | NM_001287489.1 | c.[5816G>A];[5816G>A] | Sporadic | F | Severe | Flat |
739 | OTOG | DFNB18B | NM_001277269.1 | c.[2116+2_2116+12del11];[5425C>T] | Sporadic | M | Moderate/moderate†| Flat/flat†|
1631 | PTPN11 | NS1 | NM_002834.3 | c.[836A>G];[=] | Sporadic | M | Severe/severe†| Flat/flat†|
1543 | PTPN11 | NS1 | NM_002834.3 | c.[1529A>G];[=] | Sporadic | F | Severe/profound†| Flat/steep sloping†|
1583 | SOX10 | WS2E/4C/PCWH | NM_006941.3 | c.[570C>A];[=] | Sporadic | F | Severe/severe | Gently sloping/gently sloping |
1651 | SOX10 | WS2E/4C/PCWH | NM_006941.3 | c.[1122delC];[=] | Sporadic | M | Severe/profound | Flat/gently sloping |
1636 | EYA1 | BOS1/BOR | NM_000503.5 | c.[1082G>A];[=] | AD | M | Profound/profound†| Flat/flat†|
1456 | ZNF335 | PMCH10 | NM_022095.3 | c.[1399T>C];[1505A>G] | Sporadic | F | Severe | Flat |
1410 | STRC | DFNB16 | NM_153700.2 | c.[(?_ -1)_(*1_?)del];[(?_-1)_(*1_?)del] | AR | M | Profound/severe | Flat/flat |
1564 | STRC | DFNB16 | NM_153700.2 | c.[(?_-1)_(*1_?)del];[(?_-1)_(*1_?)del] | Sporadic | F | Mild/moderate | Sloping/sloping |
1700 | STRC | DFNB16 | NM_153700.2 | c.[(?_-1)_(*1_?)del];[(?_-1)_(*1_?)del] | Sporadic | M | Moderate/moderate | Flat/flat |
1436 | STRC | DFNB16 | NM_153700.2 | c.[(?_-1)_(*1_?)del];[(?_-1)_(*1_?)del] | Sporadic | F | Moderate | Flat to gently sloping |
1633 (I-2) | STRC | DFNB16 | NM_153700.2 | c.[(?_-1)_(*1_?)del];[(?_-1)_(*1_?)del] | AD‡ | F | Moderate/moderate | Gently sloping/gently sloping |
1633 (II-1) | MYO6 | DFNA22 | NM_004999.3 | c.[1325G>A];[=] | AD‡ | M | Moderate/moderate | 2k dip/U-shape |
Family ID | Onset age of hearing loss (y) | Fluctuation | Progression | Tinnitus | Vestibular defect | Inner ear morphology (CT or MRI) | Additional phenotypes |
|---|---|---|---|---|---|---|---|
1470 | 0 | No | No | Unknown | No | Normal | Â |
1540 | 0 | No | No | Unknown | No | Normal | Â |
1479 | 0 | No | Yes | Unknown | Unknown | Normal | Â |
1688 | < 4 | No | Yes | Unknown | Unknown | Normal |  |
1644 | 0 | No | No | No | No | Normal | Motor develomental delay |
1528 | 0 | No | Unknown | No | No | Normal | Â |
1397 | 0 | No | No | Unknown | Unknown | Normal | The sibling of proband shows moderate to severe hearing loss |
1597 | 0 | No | No | Unknown | No | Normal | The sibling of proband shows congenital, moderate hearing loss with high frequency–sloping type of audiograms |
1648 | 0 | No | No | No | No | Normal | Otoacoustic emission not tested |
739 | 0 | No | No | Unknown | No | Normal | Â |
1631 | 0 | No | No | No | No | Normal | Short statue with subtle ocular hypertelorism, café au-lait pigmentation. Intellectual development not evaluated |
1543 | 0 | Unknown | No | Unknown | Unknown | Normal | Â |
1583 | 0 | No | No | Unknown | Yes | Enlarged inner ear canals, Insufficient cochlear turn, hypoplasia of bilateral semicircular canals | Mixed hearing loss and vertigo |
1651 | 0 | No | Yes | Unknown | Yes | Normal | Ptosis on right eye, brown eyes, motor development delay. Normal digestive tract |
1636 | 0 | No | Yes | No | No | Not tested | Amblyopia with refractive errors, occasional cloudy urine. The father showed mild, low-frequency bilateral hearing loss. No branchial abnormalities |
1456 | 0 | Unknown | Unknown | Unknown | Unknown | Brain hypoplasia | Epilepsy, brain hypoplasia, hypertonia, convulsion, poor weight gain, motor develomental delay |
1410 | 9 | Yes | Yes | No | No | Normal | Spiral-shaped field, progressive vision loss, hyperactivity. The sibling (III-2) exhibited progressive hearing loss with vision loss |
1564 | 0 | No | No | No | No | Normal | Â |
1700 | 0 | No | No | No | Yes | Normal | Â |
1436 | 0 | No | No | Unknown | Unknown | Not tested | Short statue |
1633 (I-2) | 0 | Unknown | Unknown | Unknown | Unknown | Not tested | Â |
1633 (II-1) | 0 | No | No | No | No | Normal | Â |