Title
Clinical and molecular studies of EXT1/EXT2 in BulgariaClinical and molecular studies of EXT1/EXT2 in Bulgaria
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Research group
Medical Genetics (MEDGEN)
Publication type
article
Publication
Lancaster,
Subject
Human medicine
Source (journal)
Journal of inherited metabolic disease. - Lancaster
Volume/pages
34(2011):4, p. 917-921
ISSN
0141-8955
ISI
000292829800010
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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.
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