PMID- 9482647
OWN - NLM
STAT- MEDLINE
DCOM- 19980326
LR  - 20161124
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 75
IP  - 4
DP  - 1998 Feb 3
TI  - Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial 
      deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural 
      tube defect.
PG  - 401-8
AB  - From a spina bifida clinic we have identified two patients with a syndrome of 
      myelomeningocele and Waardenburg syndrome type 3 (WS3). The patients each possess 
      a single, de novo, interstitial deletion of chromosome 2 (2q35-36.2), including 
      the PAX3 gene. Deletion of PAX3 was confirmed by fluorescence in situ 
      hybridization (FISH). Analysis with PAX3 and flanking microsatellites shows that 
      the deleted interval of chromosome 2 is of paternal origin and is at least 2 and 
      6 cM in the two patients. Interstitial deletions in this region result in the 
      Waardenburg syndrome (WS1), but have not been associated with neural tube defects 
      (NTDs). Although other etiologies have not been formally excluded, these patients 
      raise the possibility of a digenic etiology of their NTDs via a genetic 
      interaction of the deleted PAX3 gene with a second unidentified locus.
FAU - Nye, J S
AU  - Nye JS
AD  - Department of Molecular Pharmacology and Biological Chemistry, Northwestern 
      University School of Medicine, Chicago, Illinois 60611, USA. j-nye@nwu.edu
FAU - Balkin, N
AU  - Balkin N
FAU - Lucas, H
AU  - Lucas H
FAU - Knepper, P A
AU  - Knepper PA
FAU - McLone, D G
AU  - McLone DG
FAU - Charrow, J
AU  - Charrow J
LA  - eng
PT  - Case Reports
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 (DNA-Binding Proteins)
RN  - 0 (PAX3 Transcription Factor)
RN  - 0 (PAX3 protein, human)
RN  - 0 (Paired Box Transcription Factors)
RN  - 0 (Transcription Factors)
RN  - 138016-91-8 (Pax3 protein, mouse)
SB  - IM
MH  - Child, Preschool
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 2/*genetics
MH  - DNA-Binding Proteins/*genetics
MH  - Female
MH  - *Gene Deletion
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Meningomyelocele/*genetics
MH  - Microsatellite Repeats
MH  - Neural Tube Defects/etiology/genetics
MH  - PAX3 Transcription Factor
MH  - Paired Box Transcription Factors
MH  - Pedigree
MH  - Polymorphism, Genetic/genetics
MH  - *Transcription Factors
MH  - Waardenburg Syndrome/*genetics
EDAT- 1998/03/03 03:05
MHDA- 2000/06/20 09:00
CRDT- 1998/03/03 03:05
PHST- 1998/03/03 03:05 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1998/03/03 03:05 [entrez]
AID - 10.1002/(SICI)1096-8628(19980203)75:4<401::AID-AJMG10>3.0.CO;2-S [pii]
PST - ppublish
SO  - Am J Med Genet. 1998 Feb 3;75(4):401-8.