Table 4 Genotype-phenotype correlation in XL-AS [13]
| Â | Genotype | Phenotype |
|---|---|---|
Type S (Severe) | large rearrangements, premature stop, frameshift, donor splice site mutations, and mutations involving the NC 1-domain, 15% de novo mutations | ESRD ~ 20 years of age, 80% hearing loss, 40% ocular lesions |
Type MS (Moderate-severe) | non-glycine-X-Y missense, glycine-X-Y involving exons 21–47, in-frame and acceptor splice site mutations, 15% de novo mutations (5% de novo glycine-X-Y mutations) | ESRD ~ 26 years of age, 65% hearing loss, 30% ocular lesions |
Type M (Moderate) | glycine-XY mutations involving exons 1–20, 5% de novo mutations | ESRD ~ 30 years of age, 70% hearing loss, 30% ocular lesions |