Two further AHO-like syndrome patients with deletion of glypican 1 gene region in 2q37.2-q37.3

Int J Mol Med. 2004 Dec;14(6):977-9.

Abstract

In this report, we describe two unrelated patients with mental retardation and brachydactyly E classified as patients suffering from Albright hereditary osteodystrophy-like (AHO-like) syndrome. Fluorescence in situ hybridization (FISH) analysis using 8 different subtelomeric probes in 2q36-37 proved that the patients had subtelomeric 2qter deletions of similar size. The recently proposed candidate gene glypican 1 (GPC1) is deleted in both reported patients.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Chromosomes, Human, Pair 2 / genetics*
  • Female
  • Fibrous Dysplasia, Polyostotic / genetics*
  • Fibrous Dysplasia, Polyostotic / pathology
  • Gene Deletion*
  • Heparan Sulfate Proteoglycans / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male

Substances

  • Heparan Sulfate Proteoglycans