Mutations in the TSC2 gene: Analysis of the complete coding sequence using the protein truncation test (PTT)

Human Molecular Genetics

Volumn 6, Issue 9, 1997, Pages 1409-1414

  Van Bakel, Inge ^a   Sepp, Tuna ^a   Ward, Susannah ^a   Yates, John R W ^a   Green, Andrew J ^a,b  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ALTERNATIVE RNA SPLICING; ARTICLE; CLINICAL ARTICLE; DELETION MUTANT; DNA POLYMORPHISM; EXON; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; GENETIC SCREENING; HAMARTOMA; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL LINE; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR GENE;

ALTERNATIVE SPLICING; CELL TRANSFORMATION, NEOPLASTIC; EXONS; HUMANS; LYMPHOCYTES; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS; RNA, MESSENGER; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0030767265     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.9.1409     Document Type: Article

References (15)

1. Gomez, MR. (1991) Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria. Ann. NY Acad. Sci., 615, 1-7.
2. Povey, S., Burley, M.W., Attwood, J., et al. (1994) Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. Ann. Hum. Genet., 58, 107-127.
3. The European Chromosome 16 Tuberous Sclerosis Consortium. (1993) Identification and characterisation of the tuberous sclerosis gene on chromosome 16. Cell, 75, 1-11.
4. Kumar, A., Wolpert, C., Kandt, R.S., et al. (1995) A de novo frame-shift mutation in the tuberin gene. Hum. Mol. Genet., 4, 1471-1472.
5. Kumar, A., Kandt, R.S., Wolpert, C., Roses, A.D., Pericak-Vance, M.A., Gilbert, J.R. (1995) Mutation analysis of the TSC2 gene in an African-American family. Hum. Mol. Genet., 4, 2295-2298.
6. Vrtel, R., Verhoef, S., Bouman, K., 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.
7. Wilson, P.J., Ramesh, V., Kristiansen, A., et al. (1996) Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. Hum. Mol. Genet., 5, 249-256.
8. Maheshwar, M.M., Sandford, R., Nellist, M., et al. (1996) Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish. Hum. Mol. Genet., 5, 131-137.
9. Brook-Carter, P.T., Peral, B., Ward, C.J., et al. (1994) Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - a contiguous gene syndrome. Nature Genet., 8, 328-332.
10. Povey, S., Armour, J., Farndon, P., et al. (1994) Report and abstracts of the Third International Workshop on Chromosome 9. Cambridge. United Kingdom, 9-11 April, 1994. Ann. Hum. Genet., 58, 177-250.
11. Green, A.J., Smith, M., Yates, J.R.W. (1994) Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nature Genet., 6, 193-196.
12. Wienecke, R., Konig, A., DeClue, J.E. (1995) Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap 1GAP activity. J. Biol. Chem., 270, 16409-16414.
13. van der Luit, R., Meera Khan, P., Vasen, H., et al. (1994) Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics, 20, 1-4.
14. Xu, L., Sterner, C., Maheshwar, M.M., et al. (1995) Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues. Genomics, 27, 475-480.
15. Sherratt, T., Vulliamy, T., Dubowitz, V., Sewry, C., Strong, P. (1993) Exon skipping and translation in patients with frameshift deletions in the dystrophin gene. Am. J. Hum Genet., 53, 1007-1015.