Table 1.
Laboratory findings and genetic alterations in SRD5A3 defect
Patients
|
|||||||||
---|---|---|---|---|---|---|---|---|---|
Family (gender) | 1 (F and M)Al-Ghazali | 2 (F and M)Al-Ghazali | 3 (F and F)Morava | 4 (M) | 5 (M) | 6 (F)Morava | 7 (F)Prietch | 8 (F) | 9 (M)Assmann |
Ethnic background | Baluchia | Baluchia | Polisha | Turkisha | Polish | Turkisha | Turkisha | Turkisha | Turkisha |
Laboratory findings | |||||||||
Elevated liver enzymes | + | NA | + | + | + | + | − | + | + |
Abnormal coagulation | NA | NA | + | + | + | + | − | + | + |
Decreased AT3/Proteins C and S | NA | NA | + | + | + | + | − | + | + |
Microcytic anemia | + | + | + | + | − | − | NA | + | − |
Type I TIEF pattern | + | + | + | + | + | + | + | + | + |
Normal LLO analysisb | + | + | + | + | + | + | + | + | + |
Genetic findings | |||||||||
Mutation | c.286_288 delinsTGAGTAAGGC | c.292_293del | c.320G>A | c.424 C>T/ c.489 C>A | c.29 C>A | c.57G>A | Genomic rearrangement | c.57G>A | |
Mutation at the protein level | p.Gln96delinsX | p.Leu98Val fsX121 | p.Trp107X | p.Arg142X p.Tyr163X | p.Ser10X | p.Trp19X | Absent | p.Trp19X | |
mRNA level (fibroblasts) | Decreased | Normal | NA | Decreased | NA | Normal | Decreased | NA |
a Consanguinity.
b Analyses of lipid-linked oligosaccharides (LLOs): normal results for elongation of Dol-PP-GlcNAc2 to Dol-PP-GlcNAc2Man5 by cytosolic mannosyltransferases (Schwarz et al., 2004) and oligosaccharyltransferase (Knauer et al., 1994).
F = female; M = male; NA = not assessed. TIEF = transferrin isoelectric focusing.