CHAFAI ELALAOUI, Siham; SMAILI, Wiam; VAN-GILS, Julien; FERGELOT, Patricia; RATBI, Ilham; TAJIR, Mariam; ARVEILER, Benoit; LACOMBE, Didier; SEFIANI, Abdelaziz

doi:10.4314/ahs.v21i2.58

Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

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African Health Sciences. 2021-08-02, vol. 21, n° 2, p. 960-967

Résumé en anglais

Background: Rubinstein-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%). Objective: Clinical description and identification of mutations of patients with Rubinstein Taybi syndrome Methods: PCR and direct sequencing of CREBBP gene. Results: We 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.< Réduire

Mots clés en anglais

CREBBP gene

Moroccan

Mutation

Rubinstein Taybi syndrome

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https://oskar-bordeaux.fr/handle/20.500.12278/112883

DOI

http://dx.doi.org/10.4314/ahs.v21i2.58

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Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211

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Clinical description and mutational profile of a moroccan series of patients with rubinstein taybi syndrome

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Résumé en anglais

Mots clés en anglais

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