Open AccessClinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
Author(s) -
Siham Chafai Elalaoui,
Wiam Smaili,
Julien Van-Gils,
Patricia Fergelot,
Ilham Ratbi,
Mariam Tajir,
Benoı̂t Arveiler,
Didier Lacombe,
Abdelaziz Sefiani
Publication year - 2021
Publication title -
african health sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.391
H-Index - 44
eISSN - 1729-0503
pISSN - 1680-6905
DOI - 10.4314/ahs.v21i2.58
Subject(s) - rubinstein–taybi syndrome , microcephaly , sanger sequencing , medicine , genetics , short stature , genetic counseling , gene mutation , dermatology , pediatrics , mutation , gene , biology
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%).