PMID- 14722914
OWN - NLM
STAT- MEDLINE
DCOM- 20040308
LR  - 20220317
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 23
IP  - 2
DP  - 2004 Feb
TI  - Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 
      gene.
PG  - 111-116
LID - 10.1002/humu.10299 [doi]
AB  - A total of 500 unselected unrelated neurofibromatosis 1 (NF1) patients were 
      screened for deletions of the NF1 gene. After excluding 67 patients with known 
      intragenic NF1 mutations, the remaining 433 were genotyped using six intragenic 
      and one distal microsatellite marker for the NF1 gene. A total of 28 patients 
      were hemi- or homozygous for all seven markers and were thus considered as 
      candidates for NF1 deletion with a calculated probability of 99.99%. Metaphase or 
      interphase cells were available from 23 of these 28 individuals for molecular 
      cytogenetics. Fluorescence in situ hybridization (FISH) confirmed an NF1 deletion 
      in 22 (96%) of the 23 patients. Thus, a constitutional deletion of the NF1 gene 
      is responsible for the disease phenotype in at least 4.4% of the 500 unselected 
      NF1 patients. Genotyping using multiple microsatellite markers may provide a 
      simple, inexpensive, and efficient strategy for screening deletions of the NF1 
      gene, and can as well be applied for other large genes.
CI  - Copyright 2004 Wiley-Liss, Inc.
FAU - Kluwe, Lan
AU  - Kluwe L
AD  - Laboratory for Tumor Biology and Development Disorders, Department of 
      Maxillofacial Surgery, University Hospital Hamburg-Eppendorf; Hamburg, Germany.
FAU - Siebert, Reiner
AU  - Siebert R
AD  - Institute of Human Genetics, University Hospital Schleswig-Holstein Campus Kiel, 
      Kiel,Germany.
FAU - Gesk, Stefan
AU  - Gesk S
AD  - Institute of Human Genetics, University Hospital Schleswig-Holstein Campus Kiel, 
      Kiel,Germany.
FAU - Friedrich, Reinhard E
AU  - Friedrich RE
AD  - Laboratory for Tumor Biology and Development Disorders, Department of 
      Maxillofacial Surgery, University Hospital Hamburg-Eppendorf; Hamburg, Germany.
FAU - Tinschert, Sigrid
AU  - Tinschert S
AD  - Institute of Medical Genetics, Charite, Humboldt-University, Berlin, Germany.
FAU - Kehrer-Sawatzki, Hildegard
AU  - Kehrer-Sawatzki H
AD  - Department of Human Genetics, University of Ulm, Ulm, Germany.
FAU - Mautner, Victor-F
AU  - Mautner VF
AD  - Department of Neurology, Klinikum Nord Ochsenzoll, Hamburg, Germany.
LA  - eng
SI  - OMIM/162200
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Neurofibromin 1)
SB  - IM
MH  - Female
MH  - *Gene Deletion
MH  - *Genes, Neurofibromatosis 1
MH  - Genetic Testing/*methods
MH  - Humans
MH  - Male
MH  - Neurofibromatosis 1/*genetics
MH  - Neurofibromin 1/genetics
MH  - Sex Distribution
EDAT- 2004/01/15 05:00
MHDA- 2004/03/09 05:00
CRDT- 2004/01/15 05:00
PHST- 2004/01/15 05:00 [pubmed]
PHST- 2004/03/09 05:00 [medline]
PHST- 2004/01/15 05:00 [entrez]
AID - 10.1002/humu.10299 [doi]
PST - ppublish
SO  - Hum Mutat. 2004 Feb;23(2):111-116. doi: 10.1002/humu.10299.