PMID- 10051160
OWN - NLM
STAT- MEDLINE
DCOM- 19990507
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 82
IP  - 4
DP  - 1999 Feb 12
TI  - Severe Lhermitte-Duclos disease with unique germline mutation of PTEN.
PG  - 290-3
AB  - Germline mutations in the PTEN gene have recently been identified in some
      individuals with Cowden disease (CD), Lhermitte-Duclos disease (LDD), and
      Bannayan-Zonana syndrome. We report on a patient with CD and LDD in whom a unique
      de novo germline missense mutation is present in the PTEN gene. Direct sequence
      analysis detected a transitional change (T-->C) at nucleotide 335, resulting in
      substitution of the amino acid proline for leucine. The mutation is in exon 5,
      which has been proposed as a "hot-spot" for germline mutations. Comparison of
      this patient's clinical course with the previously reported cases of CD and LDD
      shows more extensive and more severe clinical findings than reported previously. 
      Findings in this patient contribute to the current understanding of germline PTEN
      mutations and clinical outcome.
FAU - Sutphen, R
AU  - Sutphen R
AD  - Department of Pediatrics, University of South Florida College of Medicine and H. 
      Lee Moffitt Cancer Center and Research Institute, Tampa 33612, USA.
      Rsutphen@com1.md.usf.edu
FAU - Diamond, T M
AU  - Diamond TM
FAU - Minton, S E
AU  - Minton SE
FAU - Peacocke, M
AU  - Peacocke M
FAU - Tsou, H C
AU  - Tsou HC
FAU - Root, A W
AU  - Root AW
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Tumor Suppressor Proteins)
RN  - EC 3.1.3.2 (Phosphoric Monoester Hydrolases)
RN  - EC 3.1.3.67 (PTEN Phosphohydrolase)
RN  - EC 3.1.3.67 (PTEN protein, human)
SB  - IM
MH  - Adult
MH  - Cerebellar Neoplasms/*genetics
MH  - Female
MH  - Ganglioneuroma/*genetics
MH  - Germ-Line Mutation
MH  - Hamartoma Syndrome, Multiple/*genetics
MH  - Humans
MH  - Mutation, Missense
MH  - PTEN Phosphohydrolase
MH  - Phosphoric Monoester Hydrolases/*genetics
MH  - Point Mutation
MH  - Skin Diseases/genetics
MH  - Syndrome
MH  - *Tumor Suppressor Proteins
EDAT- 1999/03/02 03:05
MHDA- 2000/06/20 09:00
CRDT- 1999/03/02 03:05
PHST- 1999/03/02 03:05 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1999/03/02 03:05 [entrez]
AID - 10.1002/(SICI)1096-8628(19990212)82:4<290::AID-AJMG3>3.0.CO;2-0 [pii]
AID - 10.1002/(sici)1096-8628(19990212)82:4<290::aid-ajmg3>3.0.co;2-0 [doi]
PST - ppublish
SO  - Am J Med Genet. 1999 Feb 12;82(4):290-3. doi:
      10.1002/(sici)1096-8628(19990212)82:4<290::aid-ajmg3>3.0.co;2-0.