title: Two further AHO-like syndrome patients with deletion of glypican 1 gene region in 2q37.2-q37.3.
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.
authors.affiliation: Institute of Human Genetics and Anthropology, Jena, Germany.
authors.forename: Anna
authors.initials: A
authors.lastname: Polityko
authors.forename: Olga
authors.initials: O
authors.lastname: Maltseva
authors.forename: Natalia
authors.initials: N
authors.lastname: Rumyantseva
authors.forename: Olga
authors.initials: O
authors.lastname: Khurs
authors.forename: Jörg
authors.initials: J
authors.lastname: Seidel
authors.forename: Uwe
authors.initials: U
authors.lastname: Claussen
authors.forename: Anja
authors.initials: A
authors.lastname: Weise
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.forename: Heike
authors.initials: H
authors.lastname: Starke
mesh_terms: 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
chemical_list: D019812:Heparan Sulfate Proteoglycans