Title
Novel **SOST** gene mutation in a sclerosteosis patient and her parents Novel **SOST** gene mutation in a sclerosteosis patient and her parents
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
New York ,
Subject
Human medicine
Source (journal)
Bone / International Bone and Mineral Society. - New York
Volume/pages
52(2013) :2 , p. 707-710
ISSN
8756-3282
ISI
000313607700023
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
Introduction Sclerosteosis (OMIM 269500) is a rare autosomal recessive condition characterized by increased bone density associated with syndactyly. It is linked to a genetic defect in the SOST gene coding for sclerostin. So far, six different loss-of-function mutations in SOST have been reported in patients with sclerosteosis. Our objective was to sequence and identify mutation in the SOST and LRP5 genes which are known to be causal for craniotubular hyperostosis in a patient from India. Patient and methods A 22 year old woman presented with typical features of sclerosteosis in form of progressive visual and hearing loss, syndactyly and radiographs revealing increased density of bone. Genomic sequencing of the SOST gene as well as exons 2, 3 and 4 of the LRP5 gene was performed. Results We identified a novel homozygous mutation in the SOST gene, characterized as one nucleotide insertion resulting in a frame shift mutation and loss of functional sclerostin. Her parents were also found to have a similar but heterozygous mutation in the SOST gene. Conclusion A novel frame shift mutation in the SOST gene causing loss of functional sclerostin was identified in a patient with sclerosteosis and her parents.
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