Article Sidebar
Published:
Aug 2, 2021DOI:
10.4314/ahs.v21i2.58Keywords:
Article Details
While African Health Sciences has been freely accessible online there have been questions on whether it is Open Access or not. We wish to clearly state that indeed African Health Sciences is Open Access. There are key issues regarding Open Access needing clarification for avoidance of doubt:
- 1. Henceforth, papers in African Health Sciences will be published under the CC BY (Creative Commons Attribution License) 4.0 International. See details on https://creativecomons.org/)
- 2. The copyright owners or the authors grant the 3rd party (perpetually and in advance) the right to disseminate, reproduce, or use the research papers in part or in full, format/medium as long as:
- No substantive errors are introduced in the process
- Attribution of authorship and correct citation details are given
- The referencing details are not changed.
Should the papers be reproduced in part, this must be clearly stated.
- 3. The papers will be freely and universally accessible online in an easily readable format such as XML in at least one widely recognized open access repository such as PUBMED CENTRAL.
B. ABRIDGED LICENCE AGREEMENT BETWEEN AUTHORS AND African Health Sciences
I submitted my manuscript to African Health Sciences and would like to affirm that:
1.0 I am authorized by my co-authors to enter into these arrangements.
2.0 I guarantee, on behalf of self and co-authors:
- That the paper is original, and has not been published in any other peer-reviewed journal; nor is it under consideration by other journal (s). It does not infringe existing copyright or any other person’s rights
- That we are/I am the sole author(s) of the paper and with authority to enter into this agreement. My granting rights to African Health Sciences is not in breach of any other obligation
- That the paper contains nothing unlawful, or libelous. Nor anything that would constitute a breach of contract, confidence or commitment given to secrecy, if published
- That I/we have taken care to ensure the integrity of the article.
3.0 I and all co-authors, agree that the paper, if accepted for publication, shall be licensed under the Creative Commons Attribution License 4.0. (see https://creativecommons.org/)
Main Article Content
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 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.
Keywords: Rubinstein Taybi syndrome; CREBBP gene; mutation; Moroccan.
