• ElalaouiSiham ChafaiSCGénomique et Epidémiologie Moléculaire des Maladies Génétiques (G2MG), Centre GENOPATH, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Maroc.Département de Génétique Médicale, Institut National d'Hygiène, Rabat, M, Wiam Smaili, Julien Van-Gils, Patricia Fergelot, Ilham Ratbi, Mariam Tajir, Benoit Arveiler, Didier Lacombe, and Abdelaziz Sefiani.
• Génomique et Epidémiologie Moléculaire des Maladies Génétiques (G2MG), Centre GENOPATH, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Maroc.
• Afr Health Sci. 2021 Jun 1; 21 (2): 960967960-967.

BackgroundRubinstein-Taybi syndrome (RSTS; OMIM 180849) is a rare autosomal dominant developmental disorder with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical face, broad thumbs and halluces, short stature, and intellectual disability. Facial dysmorphy is characteristic with microcephaly, low frontal hairline, arched eyebrows, long eyelashes, convex profile of nose, narrow palate, and micrognathia. RSTS is mainly due to mutations or microdeletions of the CREBBP gene (about 60%) and more rarely of the EP300 gene (8%).ObjectiveClinical description and identification of mutations of patients with Rubinstein Taybi syndrome.MethodsPCR and direct sequencing of CREBBP gene.ResultsWe report here, the clinical and molecular data of a series of six Moroccan patients with a phenotype of RSTS. The molecular study of the major gene CREBBP (by Sanger Sequencing followed by CGH array, if sequence normal) revealed point mutations in five patients. For the sixth patient, CGH array revealed a microdeletion carrying the CREBBP gene. Through this work, we emphasize the importance of clinical expertise in the diagnosis, management and genetic counseling in Rubinstein Taybi syndrome.© 2021 Elalaoui SC et al.

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