title: Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.
abstract: Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome characterized by development of unusual tumor-like growths. Involvement of the brain is associated with the most problematic clinical manifestations of TSC, including intellectual retardation, epilepsy and abnormal behaviors. Until now, over 300 mutations of TSC1 and TSC2 were reported. Here, we report one novel mutation of TSC1 (Q897X) and five novel mutations of TSC2 (c.336+1 G>A, L345R, E700K, R905G, K914K) identified in Japanese patients with TSC. We also identified three new polymorphisms in TSC2 (N331N, A431A, S802G). The TSC1 mutation was predicted to cause a nonsense substitution whereas all of the five TSC2 mutations were predicted to cause either a splicing error or a missense substitution. In accordance with previous findings, the patients with TSC1 mutations had milder clinical manifestations than those with TSC2 mutations.
authors.affiliation: Gene Research Center, Tottori University, Yonago 683-8503, Japan. tyamamot@grape.med.tottori-u.ac.jp
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Judy R
authors.initials: JR
authors.lastname: Pipo
authors.forename: Jian-Hua
authors.initials: JH
authors.lastname: Feng
authors.forename: Hiromasa
authors.initials: H
authors.lastname: Takeda
authors.forename: Eiji
authors.initials: E
authors.lastname: Nanba
authors.forename: Haruaki
authors.initials: H
authors.lastname: Ninomiya
authors.forename: Kousaku
authors.initials: K
authors.lastname: Ohno
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D007438:Introns; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D011506:Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
chemical_list: D018389:Codon, Nonsense; D011506:Proteins; D012097:Repressor Proteins; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins