Molecular 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.
Clinical Genetics Department, Human Genetics & Genome Research Division, National Research Centre, Egypt.
Biomed Res Int. 2015;2015:517815. doi: 10.1155/2015/517815. Epub 2015 Apr 23.
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.
石骨症是一种罕见的常染色体隐性遗传疾病，其特征是骨密度增加。编码硬骨素的 SOST 基因突变与石骨症有关。本研究纳入了两名患有石骨症的埃及兄弟及其明显正常的近亲父母。对 SOST 基因进行临床评估和基因组测序，然后对产生的变异进行计算机分析。在这两个受影响的兄弟中发现了 SOST 基因的一种新的纯合移码突变，特征是一个核苷酸胞嘧啶插入，导致提前终止密码子和功能性硬骨素丧失。他们的父母对此突变呈杂合状态。据我们所知，这是首例埃及石骨症和 SOST 基因突变的研究。
