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. 2010 Sep 17;133(11):3210–3220. doi: 10.1093/brain/awq261

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.