title: Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.
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.
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Nellist
authors.forename: O
authors.initials: O
authors.lastname: Sancak
authors.forename: M A
authors.initials: MA
authors.lastname: Goedbloed
authors.forename: M
authors.initials: M
authors.lastname: van Veghel-Plandsoen
authors.forename: A
authors.initials: A
authors.lastname: Maat-Kievit
authors.forename: D
authors.initials: D
authors.lastname: Lindhout
authors.forename: B H
authors.initials: BH
authors.lastname: Eussen
authors.forename: A
authors.initials: A
authors.lastname: de Klein
authors.forename: D J J
authors.initials: DJ
authors.lastname: Halley
authors.forename: A M W
authors.initials: AM
authors.lastname: van den Ouweland
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009154:Mutation; D010375:Pedigree; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D017931:DNA Primers; C000624650:TSC1 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins