title: Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome.
abstract: Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder affecting multiple organs. Tuberous sclerosis complex is caused by mutation in either one of the two disease-causing genes, TSC1 or TSC2, encoding for hamartin and tuberin, respectively. TSC2/PKD1 contiguous gene deletion syndrome is a very rare condition due to deletion involving both TSC2 and PKD1 genes. Tuberous sclerosis complex cannot be easily diagnosed since there is no pathognomonic feature, although there are consensus diagnostic criteria for that. Mutation analysis is useful and plays important roles. We report here two novel gross deletions of TSC2 gene in Malay patients with tuberous sclerosis complex and TSC2/PKD1 contiguous gene deletion syndrome, respectively.
authors.affiliation: *Center for Neuroscience Services and Research, and Human Genome Center, School of Medical Sciences, USM Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia. teguhharyosasongko@yahoo.com.
authors.forename: Nur Farrah Dila
authors.initials: NF
authors.lastname: Ismail
authors.forename: Nik Mohd Ariff
authors.initials: NM
authors.lastname: Nik Abdul Malik
authors.forename: Jafar
authors.initials: J
authors.lastname: Mohseni
authors.forename: Abdulqawee Mahyoob
authors.initials: AM
authors.lastname: Rani
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Hayati
authors.forename: Abdul Razak
authors.initials: AR
authors.lastname: Salmi
authors.forename: Mohd Yusof
authors.initials: MY
authors.lastname: Narazah
authors.forename: Z A M H
authors.initials: ZA
authors.lastname: Zabidi-Hussin
authors.forename: Abdul Rashid
authors.initials: AR
authors.lastname: Silawati
authors.forename: Wee Teik
authors.initials: WT
authors.lastname: Keng
authors.forename: Lock Hock
authors.initials: LH
authors.lastname: Ngu
authors.forename: Teguh Haryo
authors.initials: TH
authors.lastname: Sasongko
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008296:Malaysia; D008297:Male; D017384:Sequence Deletion; D013577:Syndrome; D050396:TRPP Cation Channels / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D050396:TRPP Cation Channels; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human
keywords: PKDTS; TSC2; TSC2/PKD1 Contiguous gene deletion syndrome; Tuberous sclerosis complex