Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis

Turkish Journal of Pediatrics

Volumn 45, Issue 1, 2003, Pages 1-5

  Apak, Anil ^a   Haliloǧlu, Göknur ^a   Köse, Gülşen ^b   Yilmaz, Engin ^a   Anlar, Banu ^a   Aysun, Sabiha ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b Social Security Hospital   (Turkey)

Author keywords

Mutation; Single stranded conformation polymorphism; TSC2; Tuberous sclerosis

Indexed keywords

ADENINE; CYTOSINE; GUANINE; HAMARTIN; RNA; THYMINE; TUBERIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOME 16P; CHROMOSOME 9Q; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILY STUDY; FEMALE; FOLLOW UP; GENE AMPLIFICATION; GENE DELETION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HAMARTOMA; HOSPITAL DEPARTMENT; HUMAN; MALE; MUTATIONAL ANALYSIS; NEUROLOGY; PEDIATRIC HOSPITAL; PEDIATRICS; POPULATION RESEARCH; RNA SPLICING; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; TUBEROUS SCLEROSIS; TURKEY (REPUBLIC); UNIVERSITY HOSPITAL;

CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; POLYMORPHISM, GENETIC; TUBEROUS SCLEROSIS; TURKEY;

EID: 0345268788     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Osborne JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis Ann NY Acad 1995; 615: 125-127.
2. Roach ES, Delgado MR. Tuberous sclerosis. Dermatol Clin 1995; 13: 151-161.
3. Curatolo P, Cortesi R, Chiron C, Jambaque I, Dulac O. Neuropsychiatric aspects of tuberous sclerosis. Ann NY Acad Sci 1991; 615: 8-16.
4. Roach ES, Gomez MR, Northrup H. Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria. J Child Neurol 1998; 13: 624-628.
5. Fryer AE, Chalmers AH, Connor JM, et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1987; 1: 659-661.
6. Gomez MR. History of the tuberous sclerosis complex. Brain Dev 1995; 17 (Suppl): 55-71.
7. Kandt RS, Haines JL, Smith M, et al. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet 1992; 2: 37-41.
8. Beauchamp R, Banwell A, McNmara P, et al. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. Hum Mutat 1998; 12: 408-416.
9. Niida Y, Lawrence-Smith N, Banwell A, et al. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Hum Mutat 1999; 14: 412-422.
10. Dabora SL, Jozwiak S, Franz DL, 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. Au K-S, Rodriguez JA, Finch JL, et al. Germline mutational analysis of the TSC2 gene in 90 tuberous sclerosis patients. Am J Hum Genet 1998; 62: 286-294.
12. Cheadle JP, Reeve MP, Sampson JR, Kwiatkowski DJ. Molecular genetic advances in tuberous sclerosis. Hum Genet 2000; 107: 97-114.
13. Sepp T, Yates JN, Green AJ. Loss of heterozygosity in tuberous sclerosis hamartomas. J Med Genet 1996; 33: 962-964.
14. Kwiatkowska J, Wigowska-Sowiniska J, Napierala D, Slomski R, Kwiatkowski DJ. Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis. N Engl J Med 1999; 340: 703-707.
15. Sampson JR, Maheshwar MM, Aspinwall R, et al. Renal cystic disease in tuberous sclerosis: role of the polycystic disease 1 gene. Am J Hum Genet 1997; 61: 843-851.
16. Henske EP, Scheithauer BW, Short MP, et al. Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet 1996; 59: 400-406.
17. Green AJ, Smith M, Yates JR. Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nat Genet 1994; 6: 193-196.
18. van Slegtenhorst M, Verhoef S, Tempelaars A, et al. Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis patients: no evidence for genotype-phenotype correlation. J Med Genet 1999; 36: 285-289.
19. Zhag H, Nanba E, Yamamoto T, et al. Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. J Hum Genet 1999; 44: 391-396.