PMID- 10220149
OWN - NLM
STAT- MEDLINE
DCOM- 19990610
LR  - 20191103
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 4
DP  - 1999
TI  - A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature
      gradient gel electrophoresis (TGGE). Mutation in brief no. 230. Online.
PG  - 337
AB  - Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with an
      incidence of between 1: 3000 and 1: 4000. Common clinical signs include more than
      six cafe-au-lait spots, multiple cutaneous neurofibromas and iris Lisch nodules. 
      Rarer are skeletal anomalies, learning disabilities and an increased risk of
      malignancy. The NF1 gene contains at least 60 exons with intron sizes ranging
      from 60 bp to more than 40 kb. Despite using different techniques including PTT, 
      SSCP heteroduplex analyses and direct sequencing, only a relatively small number 
      of mutations have been reported world-wide. Using the more sensitive technique of
      temperature gradient gel electrophoresis (TGGE), we analysed a part of the
      NF1-GAP-region, namely exon 25, in DNA samples from 131 unrelated patients. We
      have identified a novel mutation L1425P in exon 25 of the NF1 gene in a
      12-year-old boy (clinically diagnosed with NF1 at the age of 7). In contrast to
      those cases diagnosed with having both GAP-region mutations and malignant
      tumours, neither the proband nor four clinically affected family members with
      this mutation showed any evidence of malignancies.
FAU - Peters, H
AU  - Peters H
AD  - Institute of Medical Genetics, Humbodt University (Charite), Berlin, Germany.
      h.peters@genetik.charite.hu-berlin.de
FAU - Hess, D
AU  - Hess D
FAU - Fahsold, R
AU  - Fahsold R
FAU - Schulke, M
AU  - Schulke M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
SB  - IM
MH  - Child
MH  - DNA Mutational Analysis
MH  - *Electrophoresis
MH  - *Genes, Neurofibromatosis 1
MH  - Humans
MH  - Male
MH  - Mutation
EDAT- 1999/04/29 02:03
MHDA- 2000/06/22 10:00
CRDT- 1999/04/29 02:03
PHST- 1999/04/29 02:03 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/04/29 02:03 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:4<337::AID-HUMU12>3.0.CO;2-F [pii]
AID - 10.1002/(sici)1098-1004(1999)13:4<337::aid-humu12>3.0.co;2-f [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(4):337. doi:
      10.1002/(sici)1098-1004(1999)13:4<337::aid-humu12>3.0.co;2-f.