Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.

ABSTRACT:

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 m

SUBMITTER: Elalaoui SC 

PROVIDER: S-EPMC8568211 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature