Table 4.
Mutations in aprt gene
| Family | Geographic Origin | No. of Cases | Gene Region | Nucleotide Change | Effect on Coding Sequence |
|---|---|---|---|---|---|
| 1 | Unknown | 1 | Intron 4 | IVS4 + 2insT15,25,26,28 | Ala108GluX3 |
| Intron 4 | IVS4 + 2insT | Ala108GluX3 | |||
| 2 | Metropolitan France | 2 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| Intron 4 | IVS4 + 2insT | Ala108GluX3 | |||
| 3 | Metropolitan France | 2 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| Exon 5 | 2185C→T | Leu176Phe | |||
| 4 | Turkey | 1 | Exon 1 | 3G→A | no protein |
| Exon 1 | 3G→A | no protein | |||
| 5 | Metropolitan France | 1 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| Exon 3 | 1443_1444 delCT or 1445_1446delCT | Thr96ThrfsX13 or Leu97ValfsX12 | |||
| 6 | Metropolitan France | 1 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| Exon 1 | 1A→G18,26 | No protein | |||
| 7 | Metropolitan France | 1 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| Exon 5 | 2176_2178delTTC or 2179_2181 delTTC14,15,18 | ΔPhe173 or ΔPhe174 | |||
| 8 | Metropolitan France | 1 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| Intron 4 | IVS4 + 2insT | Ala108GluX3 | |||
| 9 | Metropolitan France | 1 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| Exon 1 | 1A→G | No protein | |||
| 10 | Metropolitan France | 2 | Exon 4 | 1801T→G | Val124Gly |
| Exon 4 | 1801T→G | Val124Gly | |||
| 11 | Metropolitan France | 3 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| Intron 4 | IVS4 + 2insT | Ala108GluX3 | |||
| 12 | Metropolitan France | 1 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| Exon 5 | 2183C→T | Ser175Phe | |||
| 13 | Poland | 1 | Exon 3 | 1443_1444 delCT or 1445_1446delCT | Thr96fsX13 or Leu97ValfsX12 |
| Exon 3 | 1443_1444 delCT or 1445_1446delCT | Thr96fsX13 or Leu97ValfsX12 | |||
| 14 | Metropolitan France | 1 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| Exon 3 | 1355C→T | Arg67X | |||
| 15 | Metropolitan France | 1 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| Exon 5 | 2176_2178delTTC or 2179_2181 delTTC | ΔPhe173 or ΔPhe174 | |||
| 16 | Metropolitan France | 1 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| Exon 5 | 2131_2133delGAG | ΔGlu158 | |||
| 17 | Italy/Metropolitan France | 1 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| Intron 4 | IVS4 + 2insT | Ala108GluX3 | |||
| 18 | Metropolitan France | 3 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| Exon 3 | 1443_1444 delCT or 1445_1446delCT | Thr96ThrfsX13 or Leu97ValfsX12 | |||
| 19 | Morocco | 1 | Exon 2 | 282G→C | Arg40Pro |
| Exon 2 | 282G→C | Arg40Pro | |||
| 20 | Metropolitan France | 1 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| Exon 5 | 2087T→C | Leu143Pro | |||
| 21 | Senegal | 1 | Exon 3 | 1467A→G | Glu104Gly |
| Exon 3 | 1467A→G | Glu104Gly | |||
| 22 | Spain | 1 | Exon 3 | 1350A→T13,18 | Asp65Val |
| Exon 3 | 1350A→T | Asp65Val | |||
| 23 | Lebanon | 1 | Exon 3 | 1344G→A | Gly63Asp |
| Exon 3 | 1344G→A | Gly63Asp | |||
| 24 | Portugal | 1 | Exon 3 | 1442_1443delAC | Thr96SerfsX13 |
| Exon 3 | 1442_1443delAC | Thr96SerfsX13 | |||
| 25 | Metropolitan France | 1 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| ND | ND | ND | |||
| 26 | Italy | 1 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| ND | ND | ND | |||
| 27 | Metropolitan France | 1 | Exon 5 | 2191C→T | Gln178X |
| ND | ND | ND | |||
| 28 | Metropolitan France | 1 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| ND | ND | ND | |||
| 29 | Metropolitan France | 1 | Intron 4 | IVS4 + 2insT | Ala108GluX3 |
| ND | ND | ND | |||
| 30 | Martinique | 1 | ND | ND | ND |
| ND | ND | ND | |||
| 31 | Metropolitan France | 1 | Exon 5 | 2200T→C | X181Arg |
| ND | ND | ND |
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.