Two further AHO-like syndrome patients with deletion of glypican 1 gene region in 2q37.2-q37.3.
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.
Polityko
Anna
A
Institute of Human Genetics and Anthropology, Jena, Germany.
Maltseva
Olga
O
Rumyantseva
Natalia
N
Khurs
Olga
O
Seidel
Jörg
J
Claussen
Uwe
U
Weise
Anja
A
Liehr
Thomas
T
Starke
Heike
H
D000328:Adult; D002648:Child; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics* / Q000473:pathology; D017353:Gene Deletion; D019812:Heparan Sulfate Proteoglycans / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male
D019812:Heparan Sulfate Proteoglycans