Glypican 1 gene: good candidate for brachydactyly type E.

Abstract

In this report, we describe two siblings, a brother and a sister, with mental retardation and limb abnormalities (brachymetacarpy and brachymetatarsy in the brother and clinodactyly in his sister). Fluorescent in situ hybridization analysis (FISH) using subtelomeric probes proved that the patients carried an unbalanced subtelomeric rearrangement with 2qter deletion involving the Glypican 1 gene. Given the expression pattern in the developing limb bud, Glypican 1 gene represents a good candidate for brachydactyly E.

• Authors: Maria Syrrou, Katelÿne Keymolen, Koen Devriendt, Maureen Holvoet, Reinhilde Thoelen, K Verhofstadt, Jean-Pierre Fryns
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 108 Issue 4 Pg. 310-4 (Apr 01 2002) ISSN: 0148-7299 [Print] United States
• PMID: 11920836 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2002 Wiley-Liss, Inc.

Chemical References

• Heparan Sulfate Proteoglycans

Topics

• Chromosome Deletion
• Chromosomes, Human, Pair 2 (genetics)
• Family Health
• Female
• Fingers (abnormalities)
• Genetic Predisposition to Disease (genetics)
• Hand Deformities (complications, genetics)
• Heparan Sulfate Proteoglycans (genetics)
• Humans
• In Situ Hybridization, Fluorescence
• Intellectual Disability (complications)
• Male
• Middle Aged