PMID- 10607950
OWN - NLM
STAT- MEDLINE
DCOM- 20000315
LR  - 20181130
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 90
IP  - 2
DP  - 2000 Jan 17
TI  - Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese
      patients with tuberous sclerosis: report of 10 mutations.
PG  - 123-6
AB  - Twenty-seven Japanese patients with the tuberous sclerosis complex (TSC),
      consisting of 23 sporadic and 4 familial cases, were tested for mutations in the 
      TSC1 and TSC2 genes, using single-strand conformational polymorphism analysis and
      direct sequencing. Four possible pathogenic mutations were found in the TSC1
      gene, including three frame shifts and a nonsense mutation in a familial case.
      All mutations were expected to result in a truncated hamartin gene product. The
      TSC2 gene analysis identified six possible pathogenic mutations only in the
      sporadic cases, including two frame shifts, one in-frame deletion, and three
      missense mutations. Two of the TSC2 mutations were expected to result in a
      truncated tuberin gene product. These results of the Japanese TSC patients were
      compatible with the reports from Europe and the United States, i.e., (1) TSC1
      mutations are rarer in sporadic cases than in familial cases, (2) substantial
      numbers of sporadic cases arise from mutations in the TSC2 gene, and (3)
      mutations of the TSC1 gene may cause premature truncation of hamartin.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Yamashita, Y
AU  - Yamashita Y
AD  - Department of Experimental Pathology, Cancer Institute, Tokyo, Japan.
FAU - Ono, J
AU  - Ono J
FAU - Okada, S
AU  - Okada S
FAU - Wataya-Kaneda, M
AU  - Wataya-Kaneda M
FAU - Yoshikawa, K
AU  - Yoshikawa K
FAU - Nishizawa, M
AU  - Nishizawa M
FAU - Hirayama, Y
AU  - Hirayama Y
FAU - Kobayashi, E
AU  - Kobayashi E
FAU - Seyama, K
AU  - Seyama K
FAU - Hino, O
AU  - Hino O
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Proteins)
RN  - 0 (Repressor Proteins)
RN  - 0 (TSC1 protein, human)
RN  - 0 (TSC2 protein, human)
RN  - 0 (Tuberous Sclerosis Complex 1 Protein)
RN  - 0 (Tuberous Sclerosis Complex 2 Protein)
RN  - 0 (Tumor Suppressor Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - *Exons
MH  - Female
MH  - Genotype
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Infant
MH  - Japan
MH  - Male
MH  - Middle Aged
MH  - Phenotype
MH  - Polymorphism, Single-Stranded Conformational
MH  - Proteins/*genetics
MH  - Repressor Proteins/*genetics
MH  - Tuberous Sclerosis/*genetics
MH  - Tuberous Sclerosis Complex 1 Protein
MH  - Tuberous Sclerosis Complex 2 Protein
MH  - Tumor Suppressor Proteins
EDAT- 1999/12/23 09:00
MHDA- 2000/03/18 09:00
CRDT- 1999/12/23 09:00
PHST- 1999/12/23 09:00 [pubmed]
PHST- 2000/03/18 09:00 [medline]
PHST- 1999/12/23 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(20000117)90:2<123::AID-AJMG7>3.0.CO;2-L [pii]
PST - ppublish
SO  - Am J Med Genet. 2000 Jan 17;90(2):123-6.