Glypican 1 gene: good candidate for brachydactyly type E.
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.
Syrrou
Maria
M
Center for Human Genetics, University of Leuven, Leuven, Belgium.
Keymolen
Katelÿne
K
Devriendt
Koen
K
Holvoet
Maureen
M
Thoelen
Reinhilde
R
Verhofstadt
K
K
Fryns
Jean-Pierre
JP
D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D005192:Family Health; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006226:Hand Deformities / Q000150:complications / Q000235:genetics; D019812:Heparan Sulfate Proteoglycans / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008875:Middle Aged
D019812:Heparan Sulfate Proteoglycans