PMID- 9375928
OWN - NLM
STAT- MEDLINE
DCOM- 19980123
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 73
IP  - 1
DP  - 1997 Nov 28
TI  - Do NF1 gene deletions result in a characteristic phenotype?
PG  - 80-6
AB  - Neurofibromatosis-1 (NF1) is an autosomal dominant disorder with marked 
      variability of expression. Analysis of the NF1 gene (NF1) has detected a variety 
      of mutations without any clear correlation with phenotype. However, deletions 
      which remove all of NF1 have been reported in a small number of patients who have 
      minor facial abnormalities, mental retardation, learning disabilities, and early 
      or excessive burden of cutaneous or plexiform neurofibromas. The purpose of this 
      study was to determine whether these phenotypic traits are associated with whole 
      gene deletions. Out of 406 of our NF1 patients, 70 patients had manifestations 
      previously associated with gene deletions. Thirty-five of these patients from 26 
      families were available for study. By fluorescence in situ hybridization (FISH) 
      analysis, 4 were found to have deletions of the entire gene, including 2 sporadic 
      cases, 1 familial case, and 1 case where family history could not be verified. In 
      addition, the mother of the familial case was found to be mosaic for the 
      deletion. Our results suggest that although large NF1 deletions occur with 
      relatively high frequency in patients with certain findings, the presence of a 
      deletion cannot be predicted solely on the basis of clinical phenotype.
FAU - Tonsgard, J H
AU  - Tonsgard JH
AD  - Department of Pediatrics, University of Chicago, Illinois, USA.
FAU - Yelavarthi, K K
AU  - Yelavarthi KK
FAU - Cushner, S
AU  - Cushner S
FAU - Short, M P
AU  - Short MP
FAU - Lindgren, V
AU  - Lindgren V
LA  - eng
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 (Neurofibromin 1)
RN  - 0 (Proteins)
SB  - IM
MH  - Abnormalities, Multiple
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Gene Deletion
MH  - Humans
MH  - Middle Aged
MH  - Neurofibromatosis 1/*genetics/pathology
MH  - Neurofibromin 1
MH  - Phenotype
MH  - Proteins/*genetics
EDAT- 1998/01/31 20:28
MHDA- 2000/06/20 09:00
CRDT- 1998/01/31 20:28
PHST- 1998/01/31 20:28 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1998/01/31 20:28 [entrez]
AID - 10.1002/(SICI)1096-8628(19971128)73:1<80::AID-AJMG16>3.0.CO;2-N [pii]
AID - 10.1002/(sici)1096-8628(19971128)73:1<80::aid-ajmg16>3.0.co;2-n [doi]
PST - ppublish
SO  - Am J Med Genet. 1997 Nov 28;73(1):80-6. doi: 
      10.1002/(sici)1096-8628(19971128)73:1<80::aid-ajmg16>3.0.co;2-n.