Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

European Journal of Human Genetics

Volumn 17, Issue 9, 2009, Pages 1165-1170

  Le Caignec, Cédric ^a,b,c,d   Kwiatkowski, David J ^e   Küry, Sébastien ^a   Hardouin, Jean Benoit ^c   Melki, Judith ^f   David, Albert ^a  

^a NANTES UNIVERSITY HOSPITAL   (France)

^b L INSTITUT DU THORAX   (France)

^c UNIVERSITÉ DE NANTES   (France)

^d CNRS ERL3147   (France)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

^f HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

TUBERIN;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DNA REPAIR; EMBRYO DEVELOPMENT; EXON; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC PREDISPOSITION; HUMAN; INTRON; MALE; MISSENSE MUTATION; MOSAICISM; MUTATION RATE; PRIORITY JOURNAL; RNA SPLICING; TUBEROUS SCLEROSIS;

ADULT; BASE SEQUENCE; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE DELETION; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS; YOUNG ADULT;

EID: 69249214210     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.28     Document Type: Article

References (24)

1. European Chromosome 16 Tuberous Sclerosis Consortium: Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993; 75: 1305-1315.
2. van Slegtenhorst M, de Hoogt R, Hermans C et al: Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997; 277: 805-808.
3. Crino PB, Nathanson KL, Henske EP: The tuberous sclerosis complex. N Engl J Med 2006; 355: 1345-1356.
4. Osborne JP, Jones AC, Burley MW et al: Non-penetrance in tuberous sclerosis. Lancet 2000; 355: 1698.
5. Jansen AC, Sancak O, D'Agostino MD et al: Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol 2006; 60: 528-539.
6. Khare L, Strizheva GD, Bailey JN et al: A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. J Med Genet 2001; 38 347-349.
7. O'Connor SE, Kwiatkowski DJ, Roberts PS, Wollmann RL, Huttenlocher PR: A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation. Neurology 2003; 61: 409-412.
8. Knudson Jr AG: Sutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971; 68: 820-823.
9. Jones AC, Shyamsundar MM, Thomas MW et al: Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 1999; 64: 1305-1315.
10. Dabora SL, Jozwiak S, Franz DN et al: 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 2001; 68: 64-80.
11. Maheshwar MM, Cheadle JP, Jones AC et al: The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Hum Mol Genet 1997; 6: 1991-1996.
12. Sampson JR, Scahill SJ, Stephenson JB, Mann L, Connor JM: Genetic aspects of tuberous sclerosis in the west of Scotland. J Med Genet 1989; 26: 28-31.
13. Yamashita Y, Ono J, Okada S et al: Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: Report of 10 mutations. Am J Med Genet 2000; 90: 123-126.
14. Sancak O, Nellist M, Goedbloed M et al: 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 2005; 13: 731-741.
15. Au KS, Rodriguez JA, Finch JL et al: Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. Am J Hum Genet 1998; 62: 286-294.
16. Au KS, Williams AT, Roach ES et al: Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med 2007; 9: 88-100.
17. Yamamoto T, Pipo JR, Feng JH et al: Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. Brain Dev 2002; 24: 227-230.
18. Rose VM, Au KS, Pollom G, Roach ES, Prashner HR, Northrup H: Germ-line mosaicism in tuberous sclerosis: How common? Am J Hum Genet 1999; 64: 986-992.
19. Webb DW, Osborne JP: Non-penetrance in tuberous sclerosis. J Med Genet 1991; 28: 417-419.
20. Upadhyaya M, Majounie E, Thompson P et al: Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1. Hum Genet 2003; 112: 12-17.
21. Huson SM, Compston DA, Clark P, Harper PS: A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 1989; 26: 704-711.
22. Bandipalliam P: Syndrome of early onset colon cancers, hematologic malignancies and features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. Fam Cancer 2005; 4 323-333.
23. Alotaibi H, Ricciardone MD, Ozturk M: Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia. Mutat Res 2008; 637: 209-214.
24. Wang Q, Montmain G, Ruano E et al: Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. Hum Genet 2003; 112: 117-123.