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

Jeffrey S. Nye*, Nancy Balkin, Heather Lucas, Paul A. Knepper, David G. McLone, Joel Charrow

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

40 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)401-408
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume75
Issue number4
DOIs
StatePublished - Feb 3 1998

Keywords

  • Chromosome 2 deletion
  • Dysmorphology
  • Klein-Waardenburg syndrome
  • Spina bifida
  • Transcription factor disease

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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