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.,
Genetic Testing
Centre for Rotterdam Cultural Sociology (CROCUS)

Nellist, M., van den Ouweland, A., Sancak, O., Goedbloed, M., van Veghel-Plandsoen, M., Maat-Kievit, A., … Halley, D. (2005). Large deletion at the TSC1 locus in a family with tuberous sclerosis complex. Genetic Testing, 9(3), 226–230. doi:10.1089/gte.2005.9.226