PMID- 8585580
OWN - NLM
STAT- MEDLINE
DCOM- 19960319
LR  - 20071114
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 59
IP  - 4
DP  - 1995 Dec 4
TI  - Deletion of the entire NF1 gene detected by the FISH: four deletion patients 
      associated with severe manifestations.
PG  - 528-35
AB  - Genetic analysis of NF1 has indicated a wide diversity of mutations, including 
      chromosome rearrangements, deletions, insertions, duplications, and point 
      mutations. Recently, five severely affected individuals have been found by Kayes 
      et Al. [1994] to have deletions encompassing the entire gene. These deletions 
      were detected by quantitative Southern analysis. To simplify deletion detection, 
      we have employed fluorescence in situ hybridization (FISH) using intragenic 
      probes. Thirteen unrelated individuals with NF1 have been studied. Among six with 
      severe manifestations, four have been found to have deletions detected by probes 
      cFF13, cFB5D, cP5, yA43A9, yA113D7 and yD8F4. All four deletions patients have 
      severe developmental delay, minor and major anomalies (including one with 
      bilateral iris colobomas), and multiple cutaneous neurofibromas or plexiform 
      neurofibromas which were present before age 5 years. FISH provides a simple and 
      rapid means of identification of NF1 gene deletions and will allow more rigorous 
      testing of the hypothesis that such deletions are associated with severe 
      manifestations.
FAU - Wu, B L
AU  - Wu BL
AD  - Division of Genetics, Children's Hospital, Boston, MA 02115, USA.
FAU - Austin, M A
AU  - Austin MA
FAU - Schneider, G H
AU  - Schneider GH
FAU - Boles, R G
AU  - Boles RG
FAU - Korf, B R
AU  - Korf BR
LA  - eng
GR  - 5P30HD18655-13/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
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/*genetics
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - *Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Neurofibromatoses/complications/*genetics
MH  - Neurofibromin 1
MH  - Proteins/*genetics
EDAT- 1995/12/04 00:00
MHDA- 1995/12/04 00:01
CRDT- 1995/12/04 00:00
PHST- 1995/12/04 00:00 [pubmed]
PHST- 1995/12/04 00:01 [medline]
PHST- 1995/12/04 00:00 [entrez]
AID - 10.1002/ajmg.1320590427 [doi]
PST - ppublish
SO  - Am J Med Genet. 1995 Dec 4;59(4):528-35. doi: 10.1002/ajmg.1320590427.