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A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis
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 e...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4423033/ https://www.ncbi.nlm.nih.gov/pubmed/25984533 http://dx.doi.org/10.1155/2015/517815 |
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author | Fayez, Alaaeldin Aglan, Mona Esmaiel, Nora El Zanaty, Taher Abdel Kader, Mohamed El Ruby, Mona |
author_facet | Fayez, Alaaeldin Aglan, Mona Esmaiel, Nora El Zanaty, Taher Abdel Kader, Mohamed El Ruby, Mona |
author_sort | Fayez, Alaaeldin |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4423033 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-44230332015-05-17 A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis Fayez, Alaaeldin Aglan, Mona Esmaiel, Nora El Zanaty, Taher Abdel Kader, Mohamed El Ruby, Mona Biomed Res Int Research Article 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. Hindawi Publishing Corporation 2015 2015-04-23 /pmc/articles/PMC4423033/ /pubmed/25984533 http://dx.doi.org/10.1155/2015/517815 Text en Copyright © 2015 Alaaeldin Fayez et al. https://creativecommons.org/licenses/by/3.0/ 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. |
spellingShingle | Research Article Fayez, Alaaeldin Aglan, Mona Esmaiel, Nora El Zanaty, Taher Abdel Kader, Mohamed El Ruby, Mona A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis |
title | A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis |
title_full | A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis |
title_fullStr | A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis |
title_full_unstemmed | A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis |
title_short | A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis |
title_sort | novel loss-of-sclerostin function mutation in a first egyptian family with sclerosteosis |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4423033/ https://www.ncbi.nlm.nih.gov/pubmed/25984533 http://dx.doi.org/10.1155/2015/517815 |
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