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BMC Medical Genetics

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Open Access 01-12-2019 | Intellectual Disability | Case report

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report

Authors: Mohammad M. Al-Qattan, Abdulaziz Jarman, Atif Rafique, Zuhair N. Al-Hassnan, Heba M. Al-Qattan

Published in: BMC Medical Genetics | Issue 1/2019

Abstract

Background

Rubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism.

Case presentation

We report on a Saudi boy with RSTS Type 1 and the following distinct features: a midline notch of the upper lip, a bifid tip of the tongue, a midline groove of the lower lip, plump fingers with broad / flat fingertips, and brachydactyly. The child was found to be heterozygous in the CREBBP gene for a sequence variant designated c.4963del, which is predicted to result in premature protein termination p.Leu1655Cysfs*89. The child and his father were also found to be heterozygous in the EP300 gene for a sequence variant designated c.586A > G, which is predicted to result in the amino-acid substitution p.Ile196Val.

Conclusion

Our report expands the clinical spectrum of RSTS to include several distinct facial and limb features. The variant of the CREBBP gene is known to be causative of RSTS Type 1. The variant in the EP300 gene is benign since the father carried the same variant and exhibited no abnormalities. However, functional studies are required to investigate if this benign EP300 variant influences the phenotype in the presence of disease-causing CREBBP gene mutations.

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Title: Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report
Authors: Mohammad M. Al-Qattan
Abdulaziz Jarman
Atif Rafique
Zuhair N. Al-Hassnan
Heba M. Al-Qattan
Publication date: 01-12-2019
Publisher: BioMed Central
Keywords: Intellectual Disability
Intellectual Disability
Published in: BMC Medical Genetics / Issue 1/2019
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/s12881-019-0747-5

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report

Abstract

Background

Case presentation

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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