title: Clinical and molecular studies of EXT1/EXT2 in Bulgaria.
abstract: EXT1/EXT2-CDG (Multiple cartilagineous exostoses, hereditary multiple osteochondroma (MO); OMIM 133700/133701) are common defects of O-xylosylglycan glycosylation. The diagnostic criteria are at least two osteochondromas of the juxta-epiphyseal region of long bones with in the majority of cases a positive family history and/or mutation in one of the EXT genes. The authors report data on clinical symptoms and complications of 23 patients (from 16 families), discussing the family history, age of diagnosis, new clinical and molecular data. Fifteen mutations and large deletions, of which nine are new, were detected in the EXT1 and EXT2 gene by sequence analysis, FISH and MLPA analysis.
authors.affiliation: Department of Pediatrics, Medical University of Sofia, University Children's Hospital Alexandrovska, 1, St. G. Sofiyski, 1431, Sofia, Bulgaria. mks80008@medfac.acad.bg
authors.forename: Malina Kirilova
authors.initials: MK
authors.lastname: Stancheva-Ivanova
authors.forename: Wim
authors.initials: W
authors.lastname: Wuyts
authors.forename: Els
authors.initials: E
authors.lastname: van Hul
authors.forename: Briguita Ivanova
authors.initials: BI
authors.lastname: Radeva
authors.forename: Radoslava Vasileva
authors.initials: RV
authors.lastname: Vazharova
authors.forename: Todor Petrov
authors.initials: TP
authors.lastname: Sokolov
authors.forename: Borislav Yordanov
authors.initials: BY
authors.lastname: Vladimirov
authors.forename: Margarita Dimitrova
authors.initials: MD
authors.lastname: Apostolova
authors.forename: Ivo Marinov
authors.initials: IM
authors.lastname: Kremensky
mesh_terms: D000293:Adolescent; D000328:Adult; D002031:Bulgaria; D002648:Child; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000150:complications / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005097:Exostoses, Multiple Hereditary / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics* / Q000502:physiology; D055815:Young Adult; D000099065:Exostosin 2; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2