Periventricular nodular heterotopia and Williams syndrome

Am J Med Genet A. 2006 Jun 15;140(12):1305-11. doi: 10.1002/ajmg.a.31259.

Abstract

We report here on the first case of a child with bilateral periventricular nodular heterotopia (PNH) and Williams syndrome. Fluorescent in situ hybridization (FISH) analyses demonstrated a deletion of the elastin gene in the Williams syndrome critical region (WSCR). Further mapping by loss of heterozygosity analysis both by microsatellite marker and SNP profiling demonstrated a 1.5 Mb deletion beyond the telomeric end of the typical WSCR. No mutations were identified in the X-linked filamin-A gene (the most common cause of PNH). These findings suggest another dominant PNH disorder along chromosome 7q11.23.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cerebral Ventricles / pathology*
  • Cerebral Ventriculography
  • Child
  • Chromosomes, Human, Pair 7
  • Contractile Proteins / genetics*
  • Elastin / genetics
  • Female
  • Filamins
  • Gene Deletion
  • Genes, X-Linked
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Loss of Heterozygosity
  • Microfilament Proteins / genetics*
  • Microsatellite Repeats / genetics
  • Mutation
  • Physical Chromosome Mapping
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA
  • Syndrome
  • Williams Syndrome / genetics*

Substances

  • Contractile Proteins
  • Filamins
  • Genetic Markers
  • Microfilament Proteins
  • Elastin