Patient | Number of parents studied | Gene | Exon | Mutation | Primer sequence | Anealing temperature (°) | Assay sensitivity | |||
---|---|---|---|---|---|---|---|---|---|---|
Mutation | AA effect | Type | ||||||||
*Family with possible gonadal mosaicism in which two half siblings had tuberous sclerosis, so only one parent was a suspect for having somatic mosaicism. | ||||||||||
†Families with possible gonadal mosaicism, in which two siblings had tuberous sclerosis. | ||||||||||
‡Sporadic case in which clone determined rate of mosaicism was 4.3%. | ||||||||||
1 | BHM3901 | 2 | TSC1 | 8 | 954 C>T | 245 R>X | Nonsense | GGACCATGAACTGGACCATT | 61 | <1:100 |
2 | BG401 | 2 | TSC1 | 8 | 954 C>T | 245 R>X | Nonsense | GGACCATGAACTGGACCATT | 61 | <1:200 |
3 | BG4501 | 2 | TSC2 | 7 | 767 ins G | Truncation | Insertion | AAACCCCACCTTCCAGCC | 69 | <1:500 |
4 | BG3101 | 2 | TSC2 | 11 | 1219 T>G | 407 Y>D | Missense | CATCTCTCCACCAGTTCAAATTC | 61 | <1:100 |
5 | BHM4701 | 1 | TSC2 | 13 | 1372 C>T | 458 R>X | Nonsense | CCCGCAGGAGCGAGTTCT | 58 | <1:500 |
6 | BHM5701 | 2 | TSC2 | 13 | 1372 C>T | 458 R>X | Nonsense | CCCGCAGGAGCGAGTTCT | 58 | <1:500 |
7 | BHM1001 | 2 | TSC2 | 13 | 1372 C>T | 458 R>X | Nonsense | CCCGCAGGAGCGAGTTCT | 58 | <1:500 |
8 | BHM4401 | 2 | TSC2 | 14 | 1472 C>A | 491 S>X | Nonsense | GGATGTGGGAGAGCTTCT | 58 | <1:500 |
9 | SN* | 1 | TSC2 | 16 | 1831 C>T | 611 R>W | Missense | AGCCACCATACCTGCAGTCA | 66 | <1:500 |
10 | BHM3201 | 2 | TSC2 | 16 | 1832 G>A | 611 R>Q | Missense | AGCCACCATACCTGCATCT | 59 | <1:500 |
11 | BHM4301 | 2 | TSC2 | 16 | 1832 G>A | 611 R>Q | Missense | AGCCACCATACCTGCATCT | 59 | <1:200 |
12 | BHM9701 | 2 | TSC2 | 16 | 1832 G>A | 611 R>Q | Missense | AGCCACCATACCTGCATCT | 59 | <1:200 |
13 | BG4001 | 2 | TSC2 | 16 | 1832 G>A | 611 R>Q | Missense | AGCCACCATACCTGCATCT | 59 | <1:200 |
14 | BG5301 | 1 | TSC2 | 16 | 1832 G>A | 611 R>Q | Missense | AGCCACCATACCTGCATCT | 59 | <1:200 |
15 | BHM14301 | 2 | TSC2 | 16 | 1832 G>A | 611 R>Q | Missense | AGCCACCATACCTGCATCT | 59 | <1:200 |
16 | LR83 | 2 | TSC2 | 29 | 3412 C>T | 1138 R>X | Nonsense | TTCAGGGGGCCATGGTCATT | 57 | <1:500 |
17 | BHM401 | 2 | TSC2 | 29 | 3412 C>T | 1138 R>X | Nonsense | TTCAGGGGGCCATGGTCATT | 58 | <1:200 |
18 | BHM5801 | 2 | TSC2 | 29 | 3412 C>T | 1138 R>X | Nonsense | TTCAGGGGGCCATGGTCATT | 59 | <1:200 |
19 | BHM14901 | 2 | TSC2 | 29 | 3442 C>T | 1148 Q>X | Nonsense | TTCAGGGGGCCATGGTCATT | 69 | <1:100 |
20 | 28-02† | 2 | TSC2 | 33 | 4255 C>T | 1419 Q>X | Nonsense | CCCGTCCAGGGTCCCTGATTA | 69 | <1:100 |
21 | BHM12401 | 2 | TSC2 | 33 | 4313 G>A | 1438 R>Q | Missense | GGACCCTCGGGCTGGCTCT | 69 | <1:100 |
22 | BHM8201† | 2 | TSC2 | 35 | 4620 C>A | 1540 Y>X | Nonsense | CGGCGATCTTGTGGGTGACT | 64 | <1:500 |
23 | LR85 | 2 | TSC2 | 38 | 5024 C>T | 1675 P>L | Missense | TCCACGTGATCGTCACTCT | 65 | <1:100 |
24 | BHM2601 | 1 | TSC2 | 38 | 5024 C>T | 1675 P>L | Missense | TCCACGTGATCGTCACTCT | 65 | <1:100 |
25 | BHM2601 | 1 | TSC2 | 38 | 5024 C>T | 1675 P>L | Missense | TCCACGTGATCGTCACTCT | 65 | <1:100 |
26 | BHM9001 | 1 | TSC2 | 38 | 5024 C>T | 1675 P>L | Missense | TCCACGTGATCGTCACTCT | 65 | <1:100 |
27 | BHM9201 | 2 | TSC2 | 39 | 5075-8 delAGGG | Truncation | Deletion | AGTCTCCCCAGACATGGCCT | 65 | <1:200 |
28 | LR87 | 2 | TSC2 | 40 | 5238-5255 del18 | 1746delHIKRLR | Inframe deletion | 57 | <1:100 | |
29 | ONK110 | 2 | TSC2 | 40 | 5238-5255 del18 | 1746delHIKRLR | Inframe deletion | 57 | <1:100 | |
30 | ONK114 | 2 | TSC2 | 40 | 5238-5255 del18 | 1746delHIKRLR | Inframe deletion | 57 | <1:100 | |
31 | ONK146‡ | 0 | TSC2 | 27 | 3206-7 delTG | Truncation | Deletion | TGGGAACAAGCTTGTCACTGA | 66 | NA |