PMID- 10336779
OWN - NLM
STAT- MEDLINE
DCOM- 19990412
LR  - 20131121
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 11
IP  - 5
DP  - 1998
TI  - Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief 
      no. 129. Online.
PG  - 411
AB  - Neurofibromatosis type 1 (NF1) is a dominant disorder caused by mutations in the 
      NF1 gene; approximately 100 NF1 gene mutations have been published. The CpG
      C-to-T transition is a frequent mutation mechanism in genetic disorders. To
      estimate its frequency in NF1, we employed a PCR-restriction digestion method to 
      examine 17 CpGs in 65 patients, and also screened for a CpG nonsense transition
      (R1947X) that occurs in 1-2% of patients. The analysis revealed disease-related
      CpG C-to-T transitions (including a nonsense mutation that may be as frequent as 
      R1947X) as well as a benign variant and another mutation at a CpG. Four patients 
      showed CpG mutations in analysis of 18 sites (17 surveyed by restriction digest, 
      plus the R1947X assay), including three C-to-T transitions and one C-to-G
      transversion. These 18 sites represent one-fifth of the 91 CpGs at which a C-to-T
      transition would result in a nonsense or nonconservative missense mutation. Thus,
      it is feasible that the CpG mutation rate at NF1 might be similar to that seen in
      other disorders with a high mutation rate, and that recurrent NF1 mutations may
      frequently reside at CpG sites.
FAU - Krkljus, S
AU  - Krkljus S
AD  - Department of Pediatrics, Division of Genetics, University of Florida,
      Gainesville, Florida, USA.
FAU - Abernathy, C R
AU  - Abernathy CR
FAU - Johnson, J S
AU  - Johnson JS
FAU - Williams, C A
AU  - Williams CA
FAU - Driscoll, D J
AU  - Driscoll DJ
FAU - Zori, R
AU  - Zori R
FAU - Stalker, H J
AU  - Stalker HJ
FAU - Rasmussen, S A
AU  - Rasmussen SA
FAU - Collins, F S
AU  - Collins FS
FAU - Kousseff, B G
AU  - Kousseff BG
FAU - Baumbach, L
AU  - Baumbach L
FAU - Wallace, M R
AU  - Wallace MR
LA  - eng
GR  - R29 NS31550/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 8J337D1HZY (Cytosine)
RN  - QR26YLT7LT (Thymine)
SB  - IM
MH  - *Cytosine
MH  - Genes, Neurofibromatosis 1/genetics
MH  - Genetic Testing
MH  - Humans
MH  - Mutation/*genetics
MH  - Neurofibromatosis 1/*genetics
MH  - *Thymine
EDAT- 1999/04/17 02:16
MHDA- 2000/06/22 10:00
CRDT- 1999/04/17 02:16
PHST- 1999/04/17 02:16 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/04/17 02:16 [entrez]
AID - 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU11>3.0.CO;2-2 [pii]
AID - 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU11>3.0.CO;2-2 [doi]
PST - ppublish
SO  - Hum Mutat. 1998;11(5):411. doi:
      10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU11>3.0.CO;2-2.