title: Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?
abstract: Multiple osteochondromas (MO) is an autosomal-dominant inherited disorder. The two genes responsible (EXT1 and EXT2) have been identified. We investigated 12 MO families for phenotype details and the genetic basis by cosegregation and mutation analysis (seven novel pathogenic mutations [five frameshift, one splice site, and one gross deletion] and one novel missense polymorphism). We found EXT1 to be responsible in seven families (19 affected members) and EXT2 in four families (17 affected members). One family remains undetermined. We found a tendency to a more severe phenotype in EXT1 families. As a novel finding, we could identify a single parameter (ulna/height ratio) that separates EXT1 family from EXT2 family in our series.
authors: Institute of Human Genetics, Heinrich-Heine University Duesseldorf, Duesseldorf, Germany. leube@uni-duesseldorf.de
authors: Barbara
authors: B
authors: Leube
authors: Karin
authors: K
authors: Hardt
authors: Sebastian
authors: S
authors: Portier
authors: Bettina
authors: B
authors: Westhoff
authors: Marcus
authors: M
authors: Jäger
authors: Rüdiger
authors: R
authors: Krauspe
authors: Brigitte
authors: B
authors: Royer-Pokora
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001827:Body Height / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005097:Exostoses, Multiple Hereditary / Q000145:classification / Q000201:enzymology / Q000235:genetics* / Q000473:pathology*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014457:Ulna / Q000473:pathology*; D000099065:Exostosin 2; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2