title: Novel SOST gene mutation in a sclerosteosis patient from Morocco: a case report.
abstract: Sclerosteosis (OMIM 269500) is a rare autosomal recessive condition characterized by increased bone density associated with syndactyly. It is linked to a genetic defect in the SOST gene coding for sclerostin. So far, seven different loss-of-function mutations in SOST have been reported in patients with sclerosteosis. Recently, two mutations in LRP4 gene underlying sclerosteosis were identified, reflecting the genetic heterogeneity of this disease. We report here a 30-years-old Moroccan man presented with typical clinical and radiological features of sclerosteosis who carries a novel homozygous mutation in the SOST gene, characterized as a nonsense mutation (c.79C > T; p.Gln27∗) in exon 1 of the SOST gene. This is to our knowledge the first case of sclerosteosis reported from Morocco and North Africa.
authors.affiliation: Service de Neurologie, Centre Hospitalier Provincial Hassan II, Dakhla, Morocco. Electronic address: reda.belkhribchia@hotmail.fr.
authors.forename: Mohamed Reda
authors.initials: MR
authors.lastname: Belkhribchia
authors.affiliation: UF de Génétique Moléculaire, Hôpital Lariboisière, Paris, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Collet
authors.affiliation: UF de Génétique Moléculaire, Hôpital Lariboisière, Paris, France.
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Laplanche
authors.affiliation: Cabinet ORL et Chirurgie Cervico-faciale, Casablanca, Morocco.
authors.forename: Redouane
authors.initials: R
authors.lastname: Hassani
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D001483:Base Sequence; D019485:Bone Morphogenetic Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D015576:Hyperostosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D009018:Morocco; D017354:Point Mutation; D013576:Syndactyly / Q000235:genetics* / Q000473:pathology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D019485:Bone Morphogenetic Proteins; D005819:Genetic Markers; C422903:SOST protein, human
keywords: LRP4 gene; Nonsense mutation; North Africa; SOST gene; Sclerosteosis; Sclerostin