title: Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex.
abstract: Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in the TSC1 or TSC2 genes and is frequently associated with hamartoma formation in multiple organ systems. Here, we report two novel mutations in the TSC2 gene, including a splicing mutation (IVS 29 +1G>C) in intron 29 and a deletion/insertion mutation (C.5090-5092delCCA- inAG) in exon 39 in two Chinese Han children with TSC whose first clinical manifestation was seizure. The identification of these two mutations confirmed the diagnosis of TSC and expands the spectrum of TSC2 mutations causing TSC.
authors.affiliation: Department of Paediatrics, Qilu Hospital of Shandong University, Jinan, China.
authors.forename: C R
authors.initials: CR
authors.lastname: Mi
authors.affiliation: Medical Institute of Paediatrics, Qilu Children's Hospital of Shandong University, Jinan, China.
authors.forename: H
authors.initials: H
authors.lastname: Wang
authors.affiliation: Key Laboratory of Cardiovascular Remodeling and Function Research, Qilu Hospital of Shandong University, Jinan, China.
authors.forename: H
authors.initials: H
authors.lastname: Jiang
authors.affiliation: Department of Paediatrics, Qilu Hospital of Shandong University, Jinan, China.
authors.forename: R P
authors.initials: RP
authors.lastname: Sun
authors.affiliation: Medical Institute of Paediatrics, Qilu Children's Hospital of Shandong University, Jinan, China wanggxemail@qq.com.
authors.forename: G X
authors.initials: GX
authors.lastname: Wang
mesh_terms: D044466:Asian People / Q000235:genetics*; D001921:Brain / Q000473:pathology; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007438:Introns; D008297:Male; D009154:Mutation; D010641:Phenotype; D012326:RNA Splicing; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins