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BioMed Research International
Volume 2015, Article ID 517815, 8 pages
Research Article

A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis

1Molecular Genetics and Enzymology Department, Human Genetics & Genome Research Division, National Research Centre, 33 El Bohouth Street (Former El Tahrir Street), P.O. Box 12622, Dokki, Giza, Egypt
2Clinical Genetics Department, Human Genetics & Genome Research Division, National Research Centre, Egypt
3Department of Medicine, Faculty of Medicine, Cairo University, Egypt
4Department of Orodental Genetics, Medical Research Division, National Research Centre, Egypt

Received 4 January 2015; Revised 13 March 2015; Accepted 29 March 2015

Academic Editor: Jozef Zustin

Copyright © 2015 Alaaeldin Fayez et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Sclerosteosis is a rare autosomal recessive condition characterized by increased bone density. Mutations in SOST gene coding for sclerostin are linked to sclerosteosis. Two Egyptian brothers with sclerosteosis and their apparently normal consanguineous parents were included in this study. Clinical evaluation and genomic sequencing of the SOST gene were performed followed by in silico analysis of the resulting variation. A novel homozygous frameshift mutation in the SOST gene, characterized as one nucleotide cytosine insertion that led to premature stop codon and loss of functional sclerostin, was identified in the two affected brothers. Their parents were heterozygous for the same mutation. To our knowledge this is the first Egyptian study of sclerosteosis and SOST gene causing mutation.