Table 1.
Clinical phenotype associated withSRD5A3 mutations
| CVH-385 | MR3 | 08–0487/86 | 08–0904 | 07–0153 | 07–0419 | AK0295 | |
|---|---|---|---|---|---|---|---|
| Ethnic background | Baluchi | Baluchi | Polish | Turkish | Polish | Turkish | Turkish |
| Consanguinity | + | + | + | + | − | + | + |
| Muscle hypotonia/motor retardation | +/− | + | + | + | + | + | + |
| Mental retardation | + | + | + | + | + | +/− | + |
| Cerebellar atrophy/vermis malformations | + | NA | + | + | + | − | + |
| Spasticity | +/− | +/− | + | − | − | − | − |
| Movement disorder/dystonia | − | +/− | + | − | − | − | +/− |
| Visual loss | +/− | + | + | + | + | +/− | + |
| Hypoplasia or coloboma/iris/retina/chorioid/optic disc |
+ | + | + | + | + | − | + |
| Nystagmus | + | + | + | + | + | + | + |
| Optic atrophy | + | + | + | + | + | − | − |
| Other eye malformation (microphthalmia /glaucoma/cataract) |
microphthalmia | − | + | cataract | − | glaucoma | microphthalmia cataract |
| Cardiac malformation/cardiac hypertrophy | + | − | − | − | − | − | − |
| Ichtiosis/erythroderma | + | − | − | + | + | − | + |
| Dry skin/atopic dermatitis | + | + | +/ − | − | + | − | + |
| Inverted nipples | − | − | − | + | − | + | − |
| Joint contractures | +/− | − | − | − | − | − | − |
| Swallowing problems | + | + | − | − | − | − | + |
| Failure to thrive | + | − | − | − | − | − | + |
| Microcitic anemia | + | + | + | + | − | − | + |
| Elevated liver enzymes | + | NA | + | + | + | + | + |
| Abnormal coagulation studies | NA | NA | + | + | + | + | + |
| Decreased antithrombine 3/protein C and S levels | NA | NA | + | + | + | + | + |
| Mutation cDNA | c.402_404 delinsTGAGTAAGGC | c.292_293del | c.320 G>A | het c.424 C>T het c.524 C>A |
c.29 C>A | Genomic rearrangement |
|
| Mutation at protein level | p.Gln96delinsX | p.Leu98ValfsX121 | p.Trp107X | p.Arg142X p.Tyr163X |
p.Ser10X | Absent | |
NA: data not available