Table 2.
Mutations detected in 31 cases for Tay-Sachs in an Iranian population
| Patient number | Disease Status | DNA Change/Mutation | Gene /Exonic location | Status |
|---|---|---|---|---|
| 1 | - | c.986+3A>G | HEXA | Het |
| 2 | ? | C331G Gln>Glu |
HEXB | Hom |
| 3 | * | DelTTAGGCAAGGGC C.365 | Exon 10/HEXA | Hom |
| 4 | - | G>A(4326265) G>A(43426711) A>G Glu>Glu |
HEXA/Exon 14 Non-coding region Exon 13/coding region Homozygote |
Hom Hom |
| 5 | ? | G70A, G76A and G45A T713G |
Exon 14/HEXA Exon 3/HEXB |
Het/novel mutation Het |
| 6 | - | c.170 G>A | Exon 5/HEXA | Het |
| 7 | - | IVS2+1 G>A | HEXA | Het |
| 8 | - | IVS2+1 G>A | HEXA | Het |
| 9 | * | c.631-634/ Del TTCC |
HEXA | Hom |
| 10 | - | c.170 G>A | Exon 5/HEXA | Het |
| 11 | - | c.1177, Arg393>X C>T |
Exon 11/HEXA | Het |
| 12 | ? | DelG713 | Exon 14 Non coding region / HEXB (β subunit) |
Het |
| 3 | - | Del TTAGGCAAGGGC | Exon 10/HEXA | Het |
| 14 | - | Del TTAGGCAAGGGC | Exon 10/HEXA | Het |
| 15 | * | IVS2+1 G>A | HEXA | Hom |
| 16 | * | c.1 T>C | HEXA | Hom |
| 17 | * | DelTCT | Exon 9/HEXA | Hom |
| 18 | ? | T to C R510 Stop Del G |
Exon 14/HEXA Exon 3/HEXA |
Het Het |
| 19 | * | c.1278 Insertion TATC | Exon 11/HEXA | Hom |
| 20 | * | c.1278 Insertion TATC | Exon 11/HEXA | Hom |
| 21 | - | c.368 Lys>stop | Exon 11/HEXA | Het |
| 22 | ? | A>G c.436 I>V |
Exon 11/HEXA | Hom |
| 23 | ? | A 175 G | HEXA | Hom |
| 24 | ? | InsG | HEXA (β Subunit),Intron5 | |
| 25 | * | c.1177, R393>X |
HEXA | Hom |
| 26 | ? | G80A G458A G744A/I207V |
HEXA/(β Subunit),Intron15 HEXA/(β Subunit),Intron15 HEXA/(α Subunit),Exon 5 |
Hom Het Het |
| 27 | ? | InsG | HEXA/(β Subunit),Intron5 | Hom |
| 28 | ? | c.436 A>G Iso>Val |
Exon 11/ HEXA | Hom |
| 29 | affected | c.37 C>G TAC>stop |
Exon 1/HEXA | Hom |
| 30 | ? | Del A | Exon 3/HEXA | Het/Novel Mutation |
| 31 | ? | Del A | Exon 3/HEXA | Het/Novel Mutation |
Het: Heterozygote; Hom: Homozygote; (-): not affected; (?): Unclear; (*): affected