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Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex

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dc.contributor.authorChoi, Ji-Eun-
dc.contributor.authorChae, Jong-Hee-
dc.contributor.authorHwang, Yong-Seung-
dc.contributor.authorKim, Ki-Joong-
dc.date.accessioned2010-01-07T01:41:31Z-
dc.date.available2010-01-07T01:41:31Z-
dc.date.issued2006-03-24-
dc.identifier.citationBrain Dev. 2006 Aug;28(7):440-6. Epub 2006 Mar 22.en
dc.identifier.issn0387-7604 (Print)-
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16554133-
dc.identifier.urihttp://hdl.handle.net/10371/27713-
dc.description.abstractTuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by a broad phenotypic spectrum that includes seizures, mental retardation, renal dysfunction and dermatological abnormalities. TSC is caused by mutations affecting either of the tumor-suppressor genes TSC1 and TSC2. At least 495 mutations of TSC1 and TSC2 have been reported. Twenty-two males and 22 females who were diagnosed with TSC at the Seoul National University Children's Hospital between 1982 and 2002 were enrolled in the study. Forty-four patients were from different families and included nine familial cases and 35 sporadic cases. Denaturing high performance liquid chromatography and DNA sequencing analysis of TSC1 and TSC2 revealed 13 types of mutations (30%). One novel mutation of TSC1 and nine novel mutations of TSC2 were identified. The TSC1 mutation and one of the nine TSC2 mutations were missense mutations and seven of the nine TSC2 mutations caused truncation of proteins. One novel single nucleotide substitution was identified at the consensus splicing donor site of exon 39 (c.5,069-1G>A). This mutation is predicted to cause a splicing error. Of the TSC2 mutation loci, the correlation with cardiac rhabdomyoma was more significant when the mutation was in the C-terminal part of tuberin than the N-terminal part. This is the first extensive mutational analysis of TSC1 and TSC2 in Korean TSC patients.en
dc.language.isoenen
dc.publisherElsevieren
dc.subjectChild, Preschoolen
dc.subjectDNA Mutational Analysis/methodsen
dc.subjectExons/geneticsen
dc.subjectFamily Healthen
dc.subjectFemaleen
dc.subjectGenotypeen
dc.subjectHumansen
dc.subjectKoreaen
dc.subjectMaleen
dc.subject*Mutationen
dc.subjectPhenotypeen
dc.subjectRetrospective Studiesen
dc.subjectReverse Transcriptase Polymerase Chain Reaction/methodsen
dc.subjectTuberous Sclerosis/classification/*geneticsen
dc.subjectTumor Suppressor Proteins/*geneticsen
dc.titleMutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complexen
dc.typeArticleen
dc.contributor.AlternativeAuthor최지은-
dc.contributor.AlternativeAuthor채종희-
dc.contributor.AlternativeAuthor황용승-
dc.contributor.AlternativeAuthor김기중-
dc.identifier.doi10.1016/j.braindev.2006.01.006-
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Pediatrics (소아과학전공)Journal Papers (저널논문_소아과학전공)
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