title: A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis.
abstract: 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.
authors.affiliation: 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.
authors.forename: Alaaeldin
authors.initials: A
authors.lastname: Fayez
authors.affiliation: Clinical Genetics Department, Human Genetics & Genome Research Division, National Research Centre, Egypt.
authors.forename: Mona
authors.initials: M
authors.lastname: Aglan
authors.affiliation: 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.
authors.forename: Nora
authors.initials: N
authors.lastname: Esmaiel
authors.affiliation: Department of Medicine, Faculty of Medicine, Cairo University, Egypt.
authors.forename: Taher
authors.initials: T
authors.lastname: El Zanaty
authors.affiliation: Department of Orodental Genetics, Medical Research Division, National Research Centre, Egypt.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Abdel Kader
authors.affiliation: Clinical Genetics Department, Human Genetics & Genome Research Division, National Research Centre, Egypt.
authors.forename: Mona
authors.initials: M
authors.lastname: El Ruby
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D019485:Bone Morphogenetic Proteins / Q000737:chemistry / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D004534:Egypt; D005190:Family; D005260:Female; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D015576:Hyperostosis / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D008957:Models, Genetic; D008969:Molecular Sequence Data; D050505:Mutant Proteins / Q000737:chemistry / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D013576:Syndactyly / Q000000981:diagnostic imaging / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D019485:Bone Morphogenetic Proteins; D005819:Genetic Markers; D050505:Mutant Proteins; C422903:SOST protein, human