Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Por um escritor misterioso
Last updated 28 maio 2024
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.
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
rubinstein-taybi syndrome adults - Google Search
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Low bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child with Rubinstein-Taybi syndrome
PDF) Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: A case report
Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric #Genetics # syndrome / X
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
Autism Spectrum Disorder
Rubinstein-Taybi syndrome: Multisystem involvement and its clinical
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
Recomendado para você
-
Autism Spectrum Disorder28 maio 2024
-
Rubinstein-Taybi syndrome: A report of two siblings with28 maio 2024
-
Anaesthesia Management in a Child with Rubinstein - Taybi Syndrome28 maio 2024
-
Silas : Rubinstein-Taybi Syndrome » SWEET NECTAR SOCIETY28 maio 2024
-
Dentocyclopedia - rubinstein taybi syndrome28 maio 2024
-
Rubinstein-Taybi Syndrome Images — DermNet28 maio 2024
-
Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome28 maio 2024
-
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP28 maio 2024
-
Rubinstein Taybi Syndrome 2 by Faliwar on DeviantArt28 maio 2024
-
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of28 maio 2024
você pode gostar
-
The Watcher Canvas Print – Marvel What If . . . ? – Customized28 maio 2024
-
No shovel needed to be a gold digger. - Lolcats - lol, cat memes, funny cats, funny cat pictures with words on them, funny pictures, lol cat memes28 maio 2024
-
11,400+ Boy Profile View Stock Photos, Pictures & Royalty-Free28 maio 2024
-
THIS GAME IS FUN - First ONLINE Match! Demon Slayer Hinokami28 maio 2024
-
Adjustable Cam Gears Pulley Gear for HONDA SOHC D15/D16 D-SERIES ENGINE Red28 maio 2024
-
Pokemon Craze Spawns Live-Action 'Detective Pikachu' Movie28 maio 2024
-
Artex Mahjong APK for Android Download28 maio 2024
-
Miles Morales: Spider-Man (2018) #25 (Variant), Comic Issues28 maio 2024
-
COMO TER WHITELIST DO COMPLEXO - GTA RP (CIDADE DO PAULINHO O LOKO)28 maio 2024
-
Download Ender World Mod for Minecraft PE - Ender World Mod for MCPE28 maio 2024