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- Title
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
- Authors
Langkau, Nicola; Martin, Nicola; Brandt, Regine; Zügge, Karin; Quast, Stefanie; Wiegele, Gerd; Jauch, Anna; Rehm, Marion; Kuhl, Andrea; Mack-Vetter, Monika; Zimmerhackl, Lothar Bernd; Janssen, Bart
- Abstract
Tuberous sclerosis (TSC) is a multisystem disease with manifestations in the central nervous system, skin, kidneys, heart, and other visceral organs. The development of TSC is associated with alterations within a gene on chromosome 9q34 ( TSC1) and a gene on chromosome 16p13 ( TSC2). Most de-novo patients show a mutation in TSC2, whereas only 50% of all familial cases can be related to TSC2 mutations. In the present study, 68 unrelated patients with confirmed clinical manifestations of TSC were tested for mutations in the TSC1 and TSC2 genes. In total, we studied 59 sporadic cases and 9 familial cases, including one large family with TSC2 linkage. Two pathogenic mutations were found in TSC1. The TSC2 gene analysis revealed 29 mutations, including 3 large deletions and 26 small mutations, 15 of them truncating.
- Publication
European journal of pediatrics, 2002, Vol 161, Issue 7, p393
- ISSN
0340-6199
- Publication type
Journal Article
- DOI
10.1007/s00431-001-0903-7