Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients

American Journal of Human Genetics

Volumn 62, Issue 2, 1998, Pages 286-294

  Au, Kit Sing ^a   Rodriguez, Joseph A ^a   Finch, Jennifer L ^a   Volcik, Kelly A ^a   Roach, E Steve ^b   Delgado, Mauricio R ^b   Rodriguez Jr , Estanislado ^a   Northrup, Hope ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; DNA SEQUENCE; EXON; GENE MUTATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENOME; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR GENE;

EID: 0031888424     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301705     Document Type: Article

References (53)

1. Au K-S, Rodriguez JA, Rodriguez E Jr, Dobyns WB, Delgado MR, Northrup H (1997) Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16. Hum Mutat 9:23-29
2. Baker S, Presinger A, Jessup J, Paraskeva C, Markowitz S, Wilson J, Hamilton S, et al (1990) p53 gene mutations occur in combination with 17p allelic deletions as late event in colorectal tumorigenesis. Cancer Res 50:7717-7722
3. Brook-Carter PT, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar MM, Nellist M, et al (1994) Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - a contiguous gene syndrome. Nat Genet 8:328-332
4. Brow MAD, Fors L. Cleavage fragment length polymorphism analysis for mutation scanning. Curr Opin Biotech (in press)
5. Calvert RJ, Weghorst CM, Buzard GS (1995) PCR amplification of silver-stained bands from cold SSCP gels. Biotechniques 18(5):782-786
6. Chiba I, Takahashi T, Nau M, D'Amico D, Curiel D, Mitsudomi T, Buchhagen D, et al (1990) Mutations in the p53 gene are frequent in primary resected non-small cell lung cancer. Oncogene 5:1603-1610
7. Curatolo P, Cusmai R, Cortesi F, Chiron C, Jambaque I, Dulac O (1991) Neuropsychiatric aspects of tuberous sclerosis. Ann N Y Acad Sci 615:8-16
8. Dorland's illustrated medical dictionary, 28th ed (1994) WB Saunders, Philadelphia
9. European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75:1305-1315
10. European Polycystic Kidney Disease Consortium (1994) The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 77:881-894
11. Fryer AE, Chalmers A, Connor JM, Fraser I, Povey S, Yates AD, Yates JRW, et al (1987) Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1:659-661
12. Gomez MR (ed) (1988) Tuberous sclerosis. Raven Press, New York
13. _ (1991) Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria. Ann N Y Acad Sci 615:1-7
14. Green AJ, Smith M, Yates JRW (1994) Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nat Genet 6:193-196
15. Haines JL, Short MP, Kwiatkowski DJ, Jewell A, Andermann E, Bejjani B, Yang C-H, et al (1991) Localization of one gene for tuberous sclerosis within 9q32-q34, and further evidence for heterogeneity. Am J Hum Genet 49:764-772
16. Henske EP, Scheithauer BW, Short MP, Wollmann R, Nehmias J, Hornigold N, van Slegtenhorst M, et al (1996) Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet 59:400-406
17. Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millan JL, Gamble V, et al (1995) The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 10:151-160
18. Hunt A, Dennis J (1987) Psychiatric disorder among children with tuberous sclerosis. Dev Med Child Neurol 29:190-198
19. Janssen LAJ, Sandkuyl LA, Merkens EC, Maat-Kievit JA, Sampson JR, Fleury P, Hennekam RCM, et al (1990) Genetic heterogeneity in tuberous sclerosis. Genomics 8:237-242
20. Jin F, Wienecke R, Xiao G-H, Maize JC Jr, DeClue JE, Yeung RS (1996) Suppression of tumorigenicity by the wild-type tuberous sclerosis 2 (Tsc2) gene and its C-terminal region. Proc Natl Acad Sci USA 93:9154-9159
21. Kandt RS, Haines JL, Smith M, Northrup H, Gardner RJM, Short MP, Dumars K, et al (1992) Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet 2:37-41
22. Keen J, Lester D, Inglehearn C, Curtis A, Shattacharya S (1991) Rapid detection of single-base mismatches as heteroduplexes on HydroLink gels. Trends Genet 7:5
23. Kumar A, Kandt RS, Wolpert C, Roses AD, Pericak-Vance MA, Gilbert JR (1995a) Mutation analysis of the TSC2 gene in an African-American family. Hum Mol Genet 4: 2295-2298
24. Kumar A, Wolpert C, Kandt RS, Segal J, Pufky J, Roses AD, Pericak-Vance MA, et al (1995b) A de novo frame-shift mutation in the tuberin gene. Hum Mol Genet 4:1471-1472
25. Kwiatkowski DJ, Colette D, Slaugenhaupt SA, Povey S, Gusella JF, Haines JL (1993) An index marker map of chromosome 9 provides strong evidence for positive interference. Am J Hum Genet 53:1279-1288
26. Latif F, Tory K, Gnarra J, Yao M, Duh F-M, Orcutt ML, Stackhouse T, et al (1993) Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260: 1317-1320
27. Legius E, Marchuk DA, Collins FS, Glover TW (1993) Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet 3:122-126
28. Liu Q, Sommer SS (1994) Parameters affecting the sensitivities of dideoxy-fingerprinting and SSCP. PCR Methods Appl 4: 97-108
29. Maheshwar MM, Cheadle JP, Jones AC, Myring J, Fryer AE, Harris PC, Sampson JR (1997) The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Hum Mol Genet 6: 1991-1996
30. Northrup H, Kwiatkowski DJ, Roach ES, Dobyns WB, Lewis RA, Herman GE, Rodriguez E Jr, et al (1992) Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere. Am J Hum Genet 51:709-720
31. Osborne JP, Fryer A, Webb D (1991) Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 615:125-127
32. Ott J (1991) Analysis of human genetic linkage. Johns Hopkins University Press, Baltimore
33. Roach ES, Delgado MR (1995) Tuberous sclerosis. Dermatol Clin 13:151-161
34. Roach ES, Smith M, Huttenlocher P, Bhat M, Alcorn D, Hawley L (1992) Diagnostic criteria: tuberous sclerosis complex. J Child Neurol 7:221-224
35. Roth DB, Porter TN, Wilson JH (1985) Mechanisms of non-homologous recombination in mammalian cells. Mol Cell Biol 5:2599-2607
36. Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, et al (1993) Alternation in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature 363:515-521
37. Sampson JR, Yates JRW, Pirrit LA, Fleury P, Winship I, Beighton P, Connor JM (1989) Evidence for genetic heterogeneity in tuberous sclerosis. J Med Genet 26:511-516
38. Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM (1993) The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 16:325-332
39. Shepherd CW, Gomez MR, Lie JT, Crowson CS (1991) Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 66:792-796
40. Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N (1993) Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Am J Hum Genet 53:90-96
41. Tiller GE, Rimoin DL, Murray LW, Cohn DH (1990) Tandem duplication within in a type II collagen gene (COL2A1) exon in an individual with spondylepiphyseal dysplasia. Proc Natl Acad Sci USA 87:3889-3893
42. Toguchida J, Yamaguchi T, Ritchie B, Beauchamp RL, Dayton SH, Herrera GH, Yamamuro T, et al (1992) Mutation spectrum of the p53 gene in bone and soft tissue sarcoma. Cancer Res 52:6194-6199
43. Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, et al (1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72:791-800
44. Tsuchiya H, Orimoto K, Kobayashi T, Hino O (1996) Presence of potent transcriptional activation domains in the predisposing tuberous sclerosis (Tsc2) gene product of the Eker rat model. Cancer Res 56:429-433
45. van Bakel I, Sepp T, Ward S, Yates JRW, Green AJ (1997) Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT). Hum Mol Genet 6(9):1409-1414
46. van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, et al (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277:805-808
47. Vrtel R, Verhoef S, Bouman K, Maheshwar MM, Nellist M, van Essen AJ, Bakker PLG, et al (1996) Identification of a nonsense mutation at the 5′ end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. J Med Genet 33:47-51
48. Webb DW, Clarke A, Fryer A, Osborne JP (1996) The cutaneous features of tuberous sclerosis: a population study. Br J Dermotol 135:1-5
49. Wiederholt WC, Gomez MR, Kurland LT (1985) Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982. Neurology 35:600-603
50. Wienecke R, Konig A, DeClue J (1995) Identification of tuberin, the tuberous sclerosis-2 product. J Biol Chem 270: 16409-16414
51. Wilson PJ, Ramesh V, Kristiansen A, Bove C, Jozwiak S, Kwiatkowski DJ, Short MP, et al (1996) Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. Hum Mol Genet 5:249-256
52. Xiao G-H, Shoarinejad F, Jin F, Golemis EA, Yeung RS (1997) The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. J Biol Chem 272:6097-6100
53. Xu L, Sterner C, Maheshwar MM, Wilson PJ, Nellist M, Short MP, Haines JL, et al (1995) Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues. Genomics 27:475-480