A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis.

Journal article

CONTEXT: Hereditary multiple exostosis (HME) is an autosomal dominant disorder characterized by the development of benign cartilage-capped tumors at the juxta-epiphyseal regions of long bones. HME is usually caused by mutations of EXT1 or EXT2. OBJECTIVE: The objective of this study was to investigate a three-generation Austrian kindred with HME for EXT1 and EXT2 mutations and for abnormalities of bone mineral density (BMD). METHODS: DNA sequence and mRNA analyses were used to identify the m...

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Authors: Lemos, M; Kotanko, P; Christie, P; Harding, B; Javor, T

• Publication status: Published
• Journal: Journal of clinical endocrinology and metabolism
• Volume: 90
• Issue: 9
• Pages: 5386-5392
• Publication date: 2005-09-01
• DOI: 10.1210/jc.2004-2520
• EISSN: 1945-7197
• ISSN: 0021-972X
• Language: English
• Keywords: Female; Humans; Adolescent; Bone Density; Mutation; DNA, Recombinant; Introns; Reverse Transcriptase Polymerase Chain Reaction; Case-Control Studies; Heterozygote; Femur Neck; Lumbar Vertebrae; N-Acetylglucosaminyltransferases; Cytosine; Guanine; Middle Aged; Adult; Osteoporosis; Male; Pedigree; Exostoses, Multiple Hereditary