title: Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.
abstract: Multiple exostoses represent a genetically heterogeneous disorder that may occur isolated or as part of a complex contiguous gene syndrome such as Langer-Giedion syndrome on chromosome 8 and the proximal 11p deletion syndrome on chromosome 11. Here we describe a boy with multiple exostoses, hypertrichosis, mental retardation, and epilepsy due to a de novo deletion on chromosome 8q24. Molecular analysis revealed that the deletion interval overlaps with the Langer-Giedion syndrome and involves the EXT1 gene and additional genes located distal to EXT1, but probably not encompassing the TRPS1 gene located proximal to EXT1.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
authors.forename: Wim
authors.initials: W
authors.lastname: Wuyts
authors.forename: Dominique
authors.initials: D
authors.lastname: Roland
authors.forename: Hermann-Josef
authors.initials: HJ
authors.lastname: Lüdecke
authors.forename: Jan
authors.initials: J
authors.lastname: Wauters
authors.forename: Martine
authors.initials: M
authors.lastname: Foulon
authors.forename: Wim
authors.initials: W
authors.lastname: Van Hul
authors.forename: Lionel
authors.initials: L
authors.lastname: Van Maldergem
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D002898:Chromosomes, Human, Pair 8; D004827:Epilepsy / Q000235:genetics; D005097:Exostoses, Multiple Hereditary / Q000235:genetics* / Q000473:pathology; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D015826:Langer-Giedion Syndrome; D008279:Magnetic Resonance Imaging; D008297:Male; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1