Tuberous sclerosis complex

Paediatrics and Child Health

Volumn 18, Issue 1, 2008, Pages 30-36

  O'Callaghan, Finbar ^a  

^a UNIVERSITY OF BRISTOL   (United Kingdom)

Author keywords

angiomyolipoma; epilepsy; giant cell astrocytoma; mTOR; tuberous sclerosis

Indexed keywords

HAMARTIN; MAMMALIAN TARGET OF RAPAMYCIN; PROTEIN DERIVATIVE; PROTEIN KINASE B; RAPAMYCIN; S6 KINASE; TSC1 PROTEIN; TUBERIN; UNCLASSIFIED DRUG;

ANGIOMYOLIPOMA; ARTICLE; ASTROCYTOMA; AUTISM; AUTOSOMAL DOMINANT DISORDER; BRAIN; CELL GROWTH; CHROMOSOME 16; CHROMOSOME 9; CLINICAL FEATURE; COGNITION; EPILEPSY; GENE MUTATION; GENETIC DISORDER; GENETICS; GIANT CELL ASTROCYTOMA; HAMARTOMA; HEART RHABDOMYOMA; HYPERACTIVITY; INTELLIGENCE QUOTIENT; INTERSTITIAL LUNG DISEASE; KIDNEY; KIDNEY HEMANGIOMYOLIPOMA; KIDNEY INJURY; LEARNING DISORDER; LIFE; MENTAL DISEASE; NONHUMAN; ORGAN; OUTPATIENT DEPARTMENT; PHYSICIAN; REGULATORY MECHANISM; RHABDOMYOMA; SKIN DEFECT; SLEEP DISORDER; SUBVENTRICULAR ZONE; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR GENE;

EID: 38049009562     PISSN: 17517222     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.paed.2007.10.013     Document Type: Article

References (33)

1. Osborne J.P., Fryer A., and Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 615 (1991) 125-127
2. Webb D.W., Fryer A.E., and Osborne J.P. Morbidity associated with tuberous sclerosis: a population study. Dev Med Child Neurol 38 (1996) 146-155
3. Joinson C., O'Callaghan F.J., Osborne J.P., et al. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol Med 33 (2003) 335-344
4. Yates J.R., van Bakel I., Sepp T., et al. Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. Hum Mol Genet 6 (1997) 2265-2269
5. Rose V.M., Au K.S., Pollom G., et al. Germ-line mosaicism in tuberous sclerosis: how common?. Am J Hum Genet 64 (1999) 986-992
6. Fryer A.E., Chalmers A., Connor J.M., et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1 (1987) 659-661
7. Kandt R.S., Haines J.L., Smith M., et al. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet 2 (1992) 37-41
8. van Slegtenhorst M., de Hoogt R., Hermans C., et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277 (1997) 805-808
9. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75 (1993) 1305-1315
10. Dabora S.L., Jozwiak S., Franz D.N., 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 68 (2001) 64-80
11. Jones A.C., Daniells C.E., Snell R.G., et al. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet 6 (1997) 2155-2161
12. Kwiatkowska J., Wigowska-Sowinska J., Napierala D., et al. Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis. N Engl J Med 340 (1999) 703-707
13. Sepp T., Yates J.R., and Green A.J. Loss of heterozygosity in tuberous sclerosis hamartomas. J Med Genet 33 (1996) 962-964
14. Henske E.P., Scheithauer B.W., Short M.P., et al. Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet 59 (1996) 400-406
15. van Slegtenhorst M., Nellist M., Nagelkerken B., et al. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 7 (1998) 1053-1057
16. Nellist M., van Slegtenhorst M.A., Goedbloed M., et al. Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin. J Biol Chem 274 (1999) 35647-35652
17. Maheshwar M.M., Cheadle J.P., Jones A.C., 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 6 (1997) 1991-1996
18. Kwiatkowski D.J. Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of tuberous sclerosis. Cancer Biol Ther 2 (2003) 471-476
19. Tee A.R., Fingar D.C., Manning B.D., et al. Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci U S A 99 (2002) 13571-13576
20. Franz D.N., Leonard J., Tudor C., et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol 59 (2006) 490-498
21. Hancock E., Osborne J.P., and Milner P. The treatment of West syndrome: a Cochrane review of the literature to December 2000. Brain Dev 23 (2001) 624-634
22. Madhavan D., Schaffer S., Yankovsky A., et al. Surgical outcome in tuberous sclerosis complex: A multicenter survey. Epilepsia 48 (2007) 1625-1628
23. O'Callaghan F.J., Harris T., Joinson C., et al. The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex. Arch Dis Child 89 (2004) 530-533
24. Harrison J.E., O'Callaghan F.J., Hancock E., et al. Cognitive deficits in normally intelligent patients with tuberous sclerosis. Am J Med Genet 88 (1999) 642-646
25. Raznahan A., Joinson C., O'Callaghan F., et al. Psychopathology in tuberous sclerosis: an overview and findings in a population-based sample of adults with tuberous sclerosis. J Intellect Disabil Res 50 (2006) 561-569
26. Webb D.W., Thomas R.D., and Osborne J.P. Cardiac rhabdomyomas and their association with tuberous sclerosis. Arch Dis Child 68 (1993) 367-370
27. Jozwiak S., Kotulska K., Kasprzyk-Obara J., et al. Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics 118 (2006) e1146-e1151
28. O'Callaghan F.J., Clarke A.C., Joffe H., et al. Tuberous sclerosis complex and Wolff-Parkinson-White syndrome. Arch Dis Child 78 (1998) 159-162
29. O'Callaghan F.J., Noakes M.J., Martyn C.N., et al. An epidemiological study of renal pathology in tuberous sclerosis complex. BJU Int 94 (2004) 853-857
30. Brook-Carter P.T., Peral B., Ward C.J., et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - a contiguous gene syndrome. Nat Genet 8 (1994) 328-332
31. Hancock E., and Osborne J. Lymphangioleiomyomatosis: a review of the literature. Respir Med 96 (2002) 1-6
32. Juvet S.C., McCormack F.X., Kwiatkowski D.J., et al. Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans. Am J Respir Cell Mol Biol 36 (2007) 398-408
33. Webb D.W., Clarke A., Fryer A., et al. The cutaneous features of tuberous sclerosis: a population study. Br J Dermatol 135 (1996) 1-5