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Table 4 New mutations found in the present study

From: Glucocerebrosidase Mutations in Gaucher Disease

Patient # cDNA Number Genomic Number Base Substitution Exon Amino Acid Number Amino Acid Substitution Rapid Detection Method Other Mutation Age at Dx/Current Age Type Severity Score (8) Pvl.1.
1 203 1707 C→del 3 29 Pro→Arga ASOHd 1226G 9/34 I 19 −/−
2 644 3438 C→A 6 176 Ala→Asp −PflMI ? 11/31 I 7 +/+
2A — — — — — — — 1226G 22/38 I 4 +/−
3 661 3455 C→A 6 182 Pro→Thr −HphI 1226G 12/47 I 8 −/−
4 721 3515 G→Ab 6 202 Gly→Arg −NciI 1226G 19/53 I 6 −/−
4A — — — — — — — 1226G 29/38 I 6 +/−
4B — — — — — — — 1448C 0.5/died at 3 II 24 +/−
5 887 4236 G→A 7 257 Arg→Gln −BsmAI 1226G 51/8 I 14 −/−
6 970 4319 C→T 7 285 Arg→Cys (+Nsi)c 1226G 39/20 I 10 −/−
7 1249 5864 T→G 9 378 Trp→Gly ASOHd 764A 20/59 I 11 +/+
8 1255 5870 G→A 9 380 Asp→Asn (+XcmI)c 1226G 71/40 I 8 +/−
  1. All patients were unrelated non-Jewish individuals with Gaucher disease. Patient designations without letter represent the index case.
  2. aFrame shift with early termination.
  3. bMutation creates the sequence found in the pseudogene.
  4. cRestriction site created artifically by mismatching a PCR primer.
  5. dAllele specific oligonucleotide hybridization.
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Molecular Medicine

ISSN: 1528-3658