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Tuberous Sclerosis: Between Genetic and Physical Analysis

Published online by Cambridge University Press:  01 August 2014

D.J.J. Halley
D.J.J. Halley*
Affiliation:
Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands
*
Department of Clinical Genetics, Erasmus University and University Hospital, P.O. BOX 1738, 3000 DR Rotterdam, The Netherlands

Abstract

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Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder with extensive clinical variability. Present estimates of the prevalence of TSC suggest that it may exceed 1:6,000. New mutations are frequent, as about 2/3 of all cases are apparently sporadic. Locus heterogeneity has been established, with one gene on chromosome 9q34 (TSC1) and the other on chromosome 16p13.3 (TSC2). The majority of TSC2 mutations are propably subtle alterations. In some cases, somatic and germline mosaicism might be explanations for intrafamilial phenotypic variation and apparent non penetrance. A role of the predicted protein product tuberin in growth suppression would be in agreement with allelic losses observed in tumors of TSC patients. Studies on tuberin using antibodies raised against various parts of the protein can be expected to provide insight into its normal and impaired function.

Keywords

Tuberous Sclerosis Complex (TSC)TSC2 gene

Information

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 45 , Issue 1-2 , April 1996 , pp. 63 - 75
Copyright
Copyright © The International Society for Twin Studies 1996

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