Novel Mutations in 21 Patients with Tuberous Sclerosis Complex and Variation of Tandem Splice-acceptor Sites in TSC1 exon 14

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概要

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• Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterizedby epilepsy, mental retardation, skin lesions, and tumors in various organs. However,TSC is sometimes difficult to diagnose because of its broad phenotypic spectrum. Insuch cases, it is essential to find a mutation in the disease-causing genes, TSC1 andTSC2. In this study, we analyzed 21 TSC patients from 16 families using a combinationmethod of DHPLC and nucleotide sequencing. We identified 16 novel mutations in the16 families: nine mutations in TSC1 (1 insertion, 7 deletion and 1 nonsense mutations)and seven mutations in TSC2 (2 insertion, 2 deletion, 1 missense mutations and 2splicing abnormalities). We also tested the possibility of very short alternative splicingdue to a variation of the tandem splice-acceptor sites of TSC1 exon 14 in a patient.RT-PCR and sequencing analysis indicated that no alternative splicing occurred in thepatient. In conclusion, we confirmed the diagnosis of all patients using mutationanalysis and clarified that variation of the tandem splice-acceptor sites in TSC1 exon 14does not cause a splicing abnormality.

著者

• MATSUO Masafumi

  Department of Pediatrics, Graduate School of Medicine, Kobe University

• Matsuo M

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Myeong Jin

  Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University

• Miyamoto Masaki

  Second Department Of Internal Medicine Kobe University School Of Medicine

• Matsuo Masafumi

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• TEGUH HARYO

  Department of Genetic Epidemiology, Graduate School of Medicine, Kobe University

• WATAYA-KANEDA Mari

  Department of Dermatology, Graduate School of Medicine, Osaka University

• Koterazawa Keiko

  Himeji City Center for the Handicapped

• SURINI YUSOFF

  Department of Genetic Epidemiology, Graduate School of Medicine, Kobe University

• INDRA SARI

  Department of Genetic Epidemiology, Graduate School of Medicine, Kobe University

• Nishi Hisahide

  Department of Genetic Epidemiology, Graduate School of Medicine, Kobe University

• Nishio Hisahide

  Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University

• Nishio Hisahide

  Department Of Pubic Health And Genetic Epidemiology Kobe University Graduate School Of Medicine

• Matsuo M

  Division Of Genetics International Center For Medical Research Kobe University School Of Medicine

• Myeong Jin

  Department Of Pediatrics Kobe University Graduate School Of Medicine

• Surini Yusoff

  Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University

• Teguh Haryo

  Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University

• Nishio H

  Department Of Public Health Kobe University Graduate School Of Medicine

• Indra Sari

  Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University

• Mizutori Masakazu

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Wataya-kaneda Mari

  Department Of Dermatology Graduate School Of Medicine Osaka University

• MATSUO Masafumi

  Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University

• Surini Yusoff

  Department of Epidemiology, Kobe University Graduate School of Medicine

• Indra Sari

  Department of Epidemiology, Kobe University Graduate School of Medicine

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