PMID- 10570911
OWN - NLM
STAT- MEDLINE
DCOM- 20000127
LR  - 20181130
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 44
IP  - 6
DP  - 1999
TI  - Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous
      sclerosis complex.
PG  - 391-6
AB  - We have surveyed the mutations of TSC1 and TSC2 from 38 (25 sporadic, 11
      familial, and 2 unknown) Japanese patients with tuberous sclerosis complex. In 23
      of 38 subjects, we detected 18 new mutations in addition to 4 mutations that had 
      been previously reported. We also found 3 new polymorphisms. The mutations were
      not clustered on a particular exon in either of the genes. Seven TSC1 mutations
      found in 3 familial and 4 sporadic cases were on the exons (3 missense, 2
      nonsense point mutations, a 1-base insertion, and a 2-bp deletion). Fifteen TSC2 
      mutations were found in 5 familial cases, 10 sporadic cases, and 1 unknown case. 
      The 12 mutations were on the exons (8 missense, 1 nonsense point mutations, a
      1-bp insertion, a 5-bp deletion, and a 4-bp replacement) and 3 point mutations
      were on the exon-intron junctions. Although the patients with TSC2 mutations tend
      to exhibit relatively severe mental retardation in comparison to those with TSC1 
      mutations, a genotype-phenotype correlation could not yet be established. The
      widespread distribution of TSC1/TSC2 mutations hinders the development of a
      simple diagnostic test, and the identification of individual mutations does not
      provide the prediction of prognosis.
FAU - Zhang, H
AU  - Zhang H
AD  - Gene Research Center, Tottori University, Yonago, Japan.
FAU - Nanba, E
AU  - Nanba E
FAU - Yamamoto, T
AU  - Yamamoto T
FAU - Ninomiya, H
AU  - Ninomiya H
FAU - Ohno, K
AU  - Ohno K
FAU - Mizuguchi, M
AU  - Mizuguchi M
FAU - Takeshita, K
AU  - Takeshita K
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
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
EIN - J Hum Genet 2000;45(4):269
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Humans
MH  - Japan
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Polymorphism, Single-Stranded Conformational
MH  - Proteins/*genetics
MH  - Repressor Proteins/*genetics
MH  - Tuberous Sclerosis/*genetics/*pathology
MH  - Tuberous Sclerosis Complex 1 Protein
MH  - Tuberous Sclerosis Complex 2 Protein
MH  - Tumor Suppressor Proteins
EDAT- 1999/11/26 00:00
MHDA- 1999/11/26 00:01
CRDT- 1999/11/26 00:00
PHST- 1999/11/26 00:00 [pubmed]
PHST- 1999/11/26 00:01 [medline]
PHST- 1999/11/26 00:00 [entrez]
AID - 10.1007/s100380050185 [doi]
PST - ppublish
SO  - J Hum Genet. 1999;44(6):391-6. doi: 10.1007/s100380050185.