Europe
|
Germany |
37 |
9 |
3 (8 1) |
3/4 |
3 |
NA |
1 |
10/3 |
8 |
NA |
2 |
SSCP/Sequencing (Gumbinger et al. 2009Gumbinger C, Rohsbach CB, Schulze-Bonhage A, Korinthenberg R, Zentner J, Häffner M and Fauser S (2009) Focal cortical dysplasia: A genotype-phenotype analysis of polymorphisms and mutations in the TSC genes. Epilepsia 50:1396-1408.) |
Turkey |
33 |
9 |
27 (81) |
NA |
NA |
NA |
NA |
3/0 |
2 |
NA |
1 |
SSCP/Sequencing (Apak et al. 2003Apak A, Haliloolu G, Kose G, Yilmaz E, Anlar B and Aysun S (2003) Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis. Turk J Pediatr 45:1-5.) |
Poland/USA |
224 |
NA |
38 (17) |
0/11 |
15 |
0 |
2 |
31/37 |
43 |
20 |
27 |
DHPLC/Sequencing; long-range PCR/qPCR (Dabora et al. 2001Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, et al. (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1 disease in multiple organs. Am J Hum Genet 68:64-80.) |
Netherlands |
490 |
76 |
128 (26) |
0/37 |
38 |
0 |
7 |
56/67 |
94 |
20 |
43 |
SSCP/Sequencing/ Southern blot/ FISH (Sancak et al. 2005Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A, Zonnenberg B, Verhoef S, Halley D and van den Ouweland A (2005) Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: Genotype-phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Eur J Hum Genet 13:731-741.) |
Germany |
68 |
14 |
37 (54) |
0/1 |
1 |
0 |
0 |
12/4 |
11 |
2 |
4 |
SSCP/Sequencing/ Southern blot/ FISH (Langkau et al. 2002Langkau N, Martin N, Brandt R, Zügge K, Quast S, Wiegele G, Jauch A, Rehm M, Kuhl A, Mack-Vetter M, et al. (2002) TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios. Eur J Pediatr 161:393-402.) |
Denmark |
65 |
24 |
11 (17) |
0/4 |
6 |
0 |
1 |
11/9 |
13 |
4 |
6 |
DGGE/ Sequencing; lomg range PCR/MLPA (Rendtorff et al. 2005Rendtorff ND, Bjerregaard B, Frodin M, Kjaergaard S, Hove H, Skovby F, Brøndum-Nielsen K, Schwartz M and Danish Tuberous Sclerosis Group (2005) Analysis of 65 Tuberous Sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 Long-Range PCR Sequencing, and report of 28 novel mutations. Hum Mutat 26:374-383.) |
United Kingdom |
150 |
30 |
30 (20) |
NI |
NI |
NI |
NI |
22/20 |
26 |
22 |
8 |
SSCP/ heteroduplex analysis/pulse field gel electrophoresis/ Southern blot/ long range PCR (Jones et al. 1999Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR and Cheadle JP (1999) Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 64:1305-1315.) |
SUBTOTAL
|
1067 |
162 |
274 (26) |
3/57 |
63 |
0 |
11 |
145/140 |
197 |
68 |
91 |
- |
Asia
|
India |
24 |
10 |
12 (50) |
0/0 |
1 |
NA |
0 |
3/1 |
5 |
NA |
2 |
SSCP/Sequencing (Ali et al. 2005Ali M, Girimaji SC, Markandaya M, Shukla AK, Sacchidanand S and Kumar A (2005) Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex. Acta Neurol Scand 111:54-63.) |
China |
2 |
NA |
0 |
0/0 |
0 |
NA |
0 |
0/0 |
1 |
NA |
1 |
Sequencing (Mi et al. 2014Mi CR, Wang H, Jiang H, Sun RP and Wang GX (2014) Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex. Genet Mol Res 13:2102-2106.) |
Korea |
44 |
NA |
31 (70) |
2/0 |
0 |
NA |
0 |
0/4 |
6 |
NA |
1 |
DHPLC/Sequencing (Choi et al. 2006Choi JE, Chae JH, Hwang YS and Kim KJ (2006) Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex. Brain Dev 28:440-446.) |
Japan |
21 |
2 |
0 |
0/1 |
8 |
NA |
0 |
2/0 |
4 |
NA |
3 |
DHPLC/Sequencing (Sasongko et al. 2008Sasongko TH, Wataya-Kaneda M, Koterazawa K, Gunadi, Yusoff S, Harahap IS, Lee MJ, Matsuo M and Nishio H (2008) Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14. Kobe J Med Sci 54:73-81.) |
Japan |
8 |
3 |
0 |
0/1 |
1 |
NA |
0 |
4/0 |
0 |
NA |
3 |
SSCP/Sequencing (Yamamotoa et al. 2002Yamamotoa T, Pipob JR, Fengb JH, Takeda H, Nanba E, Ninomiya H and Ohno K (2002) Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. Brain Dev 24:227-230.) |
China |
6 |
2 |
3 (50) |
0/0 |
3 |
NA |
0 |
NA |
NA |
NA |
NA |
Sequencing (Tian et al. 2013Tian H, Wang X, Wu M, Zhou G and Lu X (2013) Three novel mutations of TSC1 gene in Chinese patients with tuberous sclerosis complex. Int J Dermatol 52:1274-1290.) |
Malaysia |
2 |
- |
0 |
- |
- |
- |
- |
- |
- |
2 |
- |
MLPA (Ismail et al. 2014Ismail NFD, Malik NMANA, Mohseni J, Rani AM, Hayati F, Salmi AR, Narazah MY, Zabidi-Hussin ZA, Silawati AR, Keng WT, et al. (2014) Two novel gross deletions of TSC2 in Malaysian patients with Tuberous Sclerosis Complex and TSC2/PKD1 Contiguous Deletion Syndrome. Jpn J Clin Oncol 44:506-511.) |
Korea |
11 |
NA |
2 (18) |
1/3 |
0 |
1 |
0 |
2/1 |
0 |
1 |
2 |
Sequencing/MLPA (Jang et al. 2012Jang MA, Hong SB, Lee JH, Lee MH, Chung MP, Shin HJ, Kim JW and Ki CS (2012) Identification of TSC1 and TSC2 mutations in Korean patients with Tuberous Sclerosis Complex. Pediatr Neurol 46:222-224.) |
Taiwan |
84 |
21 |
20 (24) |
0/5 |
4 |
NA |
0 |
12/15 |
21 |
NA |
7 |
DHPLC/Sequencing (Hung et al. 2006Hung CC, Su YN, Chien SC, Liou HH, Chen CC, Chen PC, Hsieh CJ, Chen CP, Lee WT, Lin WL, et al. (2006) Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. BMC Med Genet 7:e72.) |
China |
6 |
3 |
3 (50) |
0/0 |
0 |
NA |
0 |
2/1 |
0 |
NA |
0 |
Sequencing (You et al. 2013You J, Liu H, Fu X, Chen M, Niu G, Tian H and Zhang F (2013) Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex. Indian J Dermatol Venereol Leprol 79:104-105.) |
SUBTOTAL
|
184 |
31 |
59 (32) |
3/11 |
16 |
1 |
0 |
22/21 |
32 |
3 |
17 |
- |
America
|
USA |
21 |
11 |
0 |
0/5 |
12 |
0 |
0 |
NA |
NA |
NA |
NA |
Southern blot/ heteroduplex/SSCP (Kwiatkowska et al. 1998Kwiatkowska J, Jozwiak S, Hall F, Henske EP, Haines JL, McNamara P, Braiser J, Wigowska-Sowinska J, Kasprzyk-Obara J, Short MP, et al. (1998) Comprehensive mutational analysis of the TSC1 gene: Observations on frequency of mutation, associated features, and nonpenetrance. Ann Hum Genet 62:277-285.) |
USA |
126 |
47 |
52 (41) |
0/7 |
7 |
NA |
2 |
13/14 |
23 |
NA |
8 |
SSCP/Sequencing (Niida et al. 1999Niida Y, Lawrence-Smith N, Banwell A, Hammer E, Lewis J, Beauchamp RL, Sims K, Ramesh V and Ozelius L (1999) Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Hum Mutat 14:412-422.) |
USA |
36 |
NA |
7 (19) |
0/1 |
1 |
0 |
2 |
4/6 |
6 |
4 |
2 |
Sequencing/MLPA (Qin et al. 2010Qin W, Chan JA, Vinters HV, Mathern GW, Franz DN, Taillon BE, Bouffard P and Kwiatkowski DJ (2010) Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events. Brain Pathol 20:1096-1105.) |
SUBTOTAL
|
183 |
58 |
59 (32) |
0/13 |
20 |
0 |
4 |
17/20 |
29 |
4 |
10 |
- |
TOTAL
|
1434 |
251 |
392 (27) |
6/81 |
99 |
1 |
15 |
184/181 |
258 |
75 |
118 |
- |