Abstract
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%). Clinical description and identification of mutations of patients with Rubinstein Taybi syndrome. PCR and direct sequencing of CREBBP gene. 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.
Highlights
Rubinstein-Taybi syndrome (RSTS; OMIM 180849, RSTS2; OMIM 613684) is a rare autosomal dominant genetic disease, with a prevalence estimated at one case per 125000 live births[1]
RSTS is mainly due to mutations or microdeletions of the CREBBP gene and more rarely of the EA1-associated protein p300 (EP300) gene (8%)
We report here, the clinical and molecular data of a series of six Moroccan patients with a phenotype of RSTS
Summary
Rubinstein-Taybi syndrome (RSTS; OMIM 180849, RSTS2; OMIM 613684) is a rare autosomal dominant genetic disease, with a prevalence estimated at one case per 125000 live births[1]. It is characterized by facial dysmorphy, microcephaly, broad thumbs and first toes, postnatal growth retardation, and intellectual disability. 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.
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