TABLE 1.
Phenotype of investigated family members
| Patient | Age (yr) | Sex | Genetic status | Mental retardation | Sensineural hearing loss | Conductive hearing loss | Stapes fixation | Arthrosis/joint pain | Teeth anomalies | Short stature | Hypophosphatemia |
|---|---|---|---|---|---|---|---|---|---|---|---|
| V:1 | 47 | F | Hom | + (IQ 64) | ++4 | + | NA | + | NA | + | + |
| V:2 | 45 | F | Hom | ++ (IQ 56) | − | + | NA | + | NA | − | + |
| V:5 | 31 | F | Het | − | − | − | − | −/+ | − | − | − |
| V:7 | 40 | F | Het | − | − | − | − | + | − | − | − |
| V:8 | 34 | M | Hom | + (IQ 59) | ++4 | + | + | + | + | + | + |
| V:10 | 26 | F | Hom | + (IQ 61) | + | ++4 | + | + | + | + | + |
| V:11 | 36 | M | Het | − | − | − | − | − | − | − | NA |
| V:12 | 38 | F | Het | − | − | − | − | + | − | − | − |
| VI:3 | 2 | F | Het | − | − | − | − | − | − | − | − |
| VI:4 | 3 | M | WT | − | − | − | − | − | − | − | NA |
| VI:5 | 5 | M | Het | −2 | +1 | − | − | − | − | − | − |
| VI:6 | 20 | M | Het | − | − | − | − | − | − | − | − |
| VI:7 | 6 | F | Het | − | − | − | − | − | − | − | − |
| VI:8 | 10 | F | Hom | + (IQ 66) | +4 | ++4 | + | − | + | − | + |
| VI:9 | 8 | M | WT | − | − | − | − | − | − | − | − |
| VI:10 | 17 | F | Hom | + (IQ 65) | +4 | + | + | −/+ | + | −3 | + |
| VI:11 | 6 | F | WT | − | − | − | − | − | − | − | − |
F, Female; Het, heterozygous; Hom, homozygous; M, male; NA, not accessible; WT, wild type; +, present; −, absent; ++, severe; +/−, present in some cases.
1
Congenital sensorineural hearing loss.
2
Delayed speech development.
3
Growth curve follows 2 sd.
4
Hearing loss of more than 50 dB.