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

الملخص EN

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.