Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
Por um escritor misterioso
Last updated 20 junho 2024
![Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12881-019-0747-5/MediaObjects/12881_2019_747_Fig2_HTML.png)
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.
![Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12881-019-0747-5/MediaObjects/12881_2019_747_Fig5_HTML.png)
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
![Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2F1471-2350-7-77/MediaObjects/12881_2006_Article_185_Fig1_HTML.jpg)
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
![Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics](https://ars.els-cdn.com/content/image/1-s2.0-S0002929707628699-gr2.jpg)
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect
![Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics](https://onlinelibrary.wiley.com/cms/asset/562b7209-9329-442d-8b0f-e2027f7f9dd7/ced13871-fig-0001-m.jpg)
First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene - Wang - 2019 - Clinical and Experimental Dermatology - Wiley Online Library
![Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics](https://www.frontiersin.org/files/Articles/848879/fgene-13-848879-HTML-r1/image_m/fgene-13-848879-g005.jpg)
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
![Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics](https://static.cambridge.org/binary/version/id/urn:cambridge.org:id:binary-alt:20160627192855-73615-mediumThumb-S1462399407000415_fig2g.jpg?pub-status=live)
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
![Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics](https://www.frontiersin.org/files/MyHome%20Article%20Library/1116919/1116919_Thumb_400.jpg)
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
![Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics](https://www.frontiersin.org/files/Articles/1116919/fgene-14-1116919-HTML/image_m/fgene-14-1116919-t003.jpg)
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
![Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics](https://www.frontiersin.org/files/Articles/1116919/fgene-14-1116919-HTML/image_m/fgene-14-1116919-g006.jpg)
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
![Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics](https://www.frontiersin.org/files/Articles/1116919/fgene-14-1116919-HTML/image_m/fgene-14-1116919-g005.jpg)
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
Recomendado para você
-
Ocular features in Rubinstein-Taybi syndrome: investigation of 2420 junho 2024
-
Genes, Free Full-Text20 junho 2024
-
Rubinstein-Taybi Syndrome: A case report20 junho 2024
-
Facial features of Rubinstein-Taybi syndrome20 junho 2024
-
Loving Leanne: Living with Rubinstein-Taybi Syndrome: Roome20 junho 2024
-
Adults with Rubinstein–Taybi syndrome - Stevens - 2011 - American20 junho 2024
-
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine20 junho 2024
-
Rubinstein‐Taybi syndrome in Chinese population with four novel20 junho 2024
-
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of20 junho 2024
-
Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes in Diverse Populations20 junho 2024
você pode gostar
-
Tomoe Tachibana, Absolute Duo Wiki20 junho 2024
-
Se os gigantes e lutas tentam assustar você irmão, saiba que Deus20 junho 2024
-
Abby Lee Miller (@therealabbylee) • Instagram photos and videos20 junho 2024
-
Tyr God of War and Justice by torrAl on DeviantArt20 junho 2024
-
Guun20 junho 2024
-
Xbox One S Com 2 Controle E Jogo Original Completo Promoção20 junho 2024
-
Fada Madrinha Presente Menina Silicone Bebe Reborn Banho20 junho 2024
-
PSP Review - Saint Seiya Omega: Ultimate Cosmo20 junho 2024
-
Rainbow friends red fanart by scourgethebear1 on Sketchers United20 junho 2024
-
Cut the Rope – Apps on Google Play20 junho 2024