1. Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.
- Author
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Nellist M, Sancak O, Goedbloed MA, van Veghel-Plandsoen M, Maat-Kievit A, Lindhout D, Eussen BH, de Klein A, Halley DJ, and van den Ouweland AM
- Subjects
- Base Sequence, DNA Primers, Female, Humans, In Situ Hybridization, Fluorescence, Male, Pedigree, Tuberous Sclerosis Complex 1 Protein, Gene Deletion, Mutation, Tuberous Sclerosis genetics, Tumor Suppressor Proteins genetics
- Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34, or the TSC2 gene on chromosome 16p13.3. Here we describe a deletion encompassing the TSC1 gene and two neighboring transcripts on chromosome 9q34 in six affected individuals from a family with TSC. To our knowledge, this is the first report of such a large deletion at the TSC1 locus and indicates that screening for similar mutations at the TSC1 locus is warranted in individuals with TSC.
- Published
- 2005
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