Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.
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.
Wuyts
Wim
W
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Roland
Dominique
D
Lüdecke
Hermann-Josef
HJ
Wauters
Jan
J
Foulon
Martine
M
Van Hul
Wim
W
Van Maldergem
Lionel
L
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
D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1