Table 4.

Mutations in aprt gene

FamilyGeographic OriginNo. of CasesGene RegionNucleotide ChangeEffect on Coding Sequence
1Unknown1Intron 4IVS4 + 2insT15,25,26,28Ala108GluX3
Intron 4IVS4 + 2insTAla108GluX3
2Metropolitan France2Intron 4IVS4 + 2insTAla108GluX3
Intron 4IVS4 + 2insTAla108GluX3
3Metropolitan France2Intron 4IVS4 + 2insTAla108GluX3
Exon 52185C→TLeu176Phe
4Turkey1Exon 13G→Ano protein
Exon 13G→Ano protein
5Metropolitan France1Intron 4IVS4 + 2insTAla108GluX3
Exon 31443_1444 delCT or 1445_1446delCTThr96ThrfsX13 or Leu97ValfsX12
6Metropolitan France1Intron 4IVS4 + 2insTAla108GluX3
Exon 11A→G18,26No protein
7Metropolitan France1Intron 4IVS4 + 2insTAla108GluX3
Exon 52176_2178delTTC or 2179_2181 delTTC14,15,18ΔPhe173 or ΔPhe174
8Metropolitan France1Intron 4IVS4 + 2insTAla108GluX3
Intron 4IVS4 + 2insTAla108GluX3
9Metropolitan France1Intron 4IVS4 + 2insTAla108GluX3
Exon 11A→GNo protein
10Metropolitan France2Exon 41801T→GVal124Gly
Exon 41801T→GVal124Gly
11Metropolitan France3Intron 4IVS4 + 2insTAla108GluX3
Intron 4IVS4 + 2insTAla108GluX3
12Metropolitan France1Intron 4IVS4 + 2insTAla108GluX3
Exon 52183C→TSer175Phe
13Poland1Exon 31443_1444 delCT or 1445_1446delCTThr96fsX13 or Leu97ValfsX12
Exon 31443_1444 delCT or 1445_1446delCTThr96fsX13 or Leu97ValfsX12
14Metropolitan France1Intron 4IVS4 + 2insTAla108GluX3
Exon 31355C→TArg67X
15Metropolitan France1Intron 4IVS4 + 2insTAla108GluX3
Exon 52176_2178delTTC or 2179_2181 delTTCΔPhe173 or ΔPhe174
16Metropolitan France1Intron 4IVS4 + 2insTAla108GluX3
Exon 52131_2133delGAGΔGlu158
17Italy/Metropolitan France1Intron 4IVS4 + 2insTAla108GluX3
Intron 4IVS4 + 2insTAla108GluX3
18Metropolitan France3Intron 4IVS4 + 2insTAla108GluX3
Exon 31443_1444 delCT or 1445_1446delCTThr96ThrfsX13 or Leu97ValfsX12
19Morocco1Exon 2282G→CArg40Pro
Exon 2282G→CArg40Pro
20Metropolitan France1Intron 4IVS4 + 2insTAla108GluX3
Exon 52087T→CLeu143Pro
21Senegal1Exon 31467A→GGlu104Gly
Exon 31467A→GGlu104Gly
22Spain1Exon 31350A→T13,18Asp65Val
Exon 31350A→TAsp65Val
23Lebanon1Exon 31344G→AGly63Asp
Exon 31344G→AGly63Asp
24Portugal1Exon 31442_1443delACThr96SerfsX13
Exon 31442_1443delACThr96SerfsX13
25Metropolitan France1Intron 4IVS4 + 2insTAla108GluX3
NDNDND
26Italy1Intron 4IVS4 + 2insTAla108GluX3
NDNDND
27Metropolitan France1Exon 52191C→TGln178X
NDNDND
28Metropolitan France1Intron 4IVS4 + 2insTAla108GluX3
NDNDND
29Metropolitan France1Intron 4IVS4 + 2insTAla108GluX3
NDNDND
30Martinique1NDNDND
NDNDND
31Metropolitan France1Exon 52200T→CX181Arg
NDNDND
  • Molecular study was performed of 38 patients from 31 families. All cases were confirmed by APRT activity assay demonstrating null activity in erythrocyte lysates. Geographic origin of father and mother are indicated for each kindred. Gene region mutated and nucleotide changes in genomic DNA and their consequences on protein sequence for the two mutated alleles are provided for each family. ND, no mutation detected. References are indicated for the four previously reported mutations (IVS4 + 2insT, 1A→G, 1350A→T, and 2176–2178delTTC). See references12,13 for gene annotation.