Novel SOST gene mutation in a sclerosteosis patient from Morocco: a case report.

Autor: Belkhribchia MR; Service de Neurologie, Centre Hospitalier Provincial Hassan II, Dakhla, Morocco. Electronic address: reda.belkhribchia@hotmail.fr., Collet C; UF de Génétique Moléculaire, Hôpital Lariboisière, Paris, France., Laplanche JL; UF de Génétique Moléculaire, Hôpital Lariboisière, Paris, France., Hassani R; Cabinet ORL et Chirurgie Cervico-faciale, Casablanca, Morocco.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2014 Mar; Vol. 57 (4), pp. 133-7. Date of Electronic Publication: 2014 Mar 01.
DOI: 10.1016/j.ejmg.2014.02.007
Abstrakt: 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.
(Copyright © 2014 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
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