PMID- 10069705
OWN - NLM
STAT- MEDLINE
DCOM- 19990517
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 82
IP  - 5
DP  - 1999 Feb 19
TI  - Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss 
      of heterozygosity in a lung cyst.
PG  - 368-70
AB  - A Japanese patient with tuberous sclerosis (TSC), who manifested with multiple
      lung cysts and pneumothorax, is described. All exons of two TSC genes, TSC1 and
      TSC2, in peripheral blood leukocytes from the patient were analyzed by polymerase
      chain reaction-single strand conformation polymorphism (PCR-SSCP). A novel T-to-G
      transition was found in exon 19 of TSC2 at nucleotide position 2168. This
      mutation caused an amino acid change, L717R. There was no such mutation in any
      other family members or in 100 normal Japanese. An automated sequencer-assisted
      quantitative analysis of normal and mutated SSCP-bands revealed no loss of
      heterozygosity (LOH) in the lung cyst tissue of the patient.
FAU - Zhang, H
AU  - Zhang H
AD  - Department of Neurobiology, School of Life Science, Tottori University, Yonago,
      Japan.
FAU - Yamamoto, T
AU  - Yamamoto T
FAU - Nanba, E
AU  - Nanba E
FAU - Kitamura, Y
AU  - Kitamura Y
FAU - Terada, T
AU  - Terada T
FAU - Akaboshi, S
AU  - Akaboshi S
FAU - Yuasa, I
AU  - Yuasa I
FAU - Ohtani, K
AU  - Ohtani K
FAU - Nakamoto, S
AU  - Nakamoto S
FAU - Takeshita, K
AU  - Takeshita K
FAU - Ohno, K
AU  - Ohno K
LA  - eng
PT  - Case Reports
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 (Repressor Proteins)
RN  - 0 (TSC2 protein, human)
RN  - 0 (Tuberous Sclerosis Complex 2 Protein)
RN  - 0 (Tumor Suppressor Proteins)
SB  - IM
MH  - Adolescent
MH  - Chromosomes, Human, Pair 16/genetics
MH  - Cysts/metabolism
MH  - Female
MH  - Humans
MH  - Loss of Heterozygosity/genetics
MH  - Lung Diseases/*genetics
MH  - *Point Mutation
MH  - Polymorphism, Single-Stranded Conformational
MH  - Repressor Proteins/*genetics
MH  - Tuberous Sclerosis/*genetics
MH  - Tuberous Sclerosis Complex 2 Protein
MH  - Tumor Suppressor Proteins
EDAT- 1999/03/09 03:01
MHDA- 2000/06/20 09:00
CRDT- 1999/03/09 03:01
PHST- 1999/03/09 03:01 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1999/03/09 03:01 [entrez]
AID - 10.1002/(SICI)1096-8628(19990219)82:5<368::AID-AJMG2>3.0.CO;2-I [pii]
AID - 10.1002/(sici)1096-8628(19990219)82:5<368::aid-ajmg2>3.0.co;2-i [doi]
PST - ppublish
SO  - Am J Med Genet. 1999 Feb 19;82(5):368-70. doi:
      10.1002/(sici)1096-8628(19990219)82:5<368::aid-ajmg2>3.0.co;2-i.