Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Por um escritor misterioso
Last updated 03 junho 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.
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein-Taybi Syndrome: A case report
The - The Rubinstein-Taybi Syndrome Children's Foundation
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect. - Abstract - Europe PMC
PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Genes, Free Full-Text
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
Recomendado para você
-
First case report of inherited Rubinstein-Taybi syndrome03 junho 2024
-
Forgotten Diseases Research Foundation03 junho 2024
-
Key Facts03 junho 2024
-
Psychiatric Profile in Rubinstein-Taybi Syndrome03 junho 2024
-
Frontiers Case report: A preterm infant with rubinstein-taybi03 junho 2024
-
Rubinstein-Taybi Syndrome Support Group03 junho 2024
-
Rubinstein-Taybi syndrome: Dental manifestations and management03 junho 2024
-
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP03 junho 2024
-
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine03 junho 2024
-
High frequency of copy number imbalances in Rubinstein–Taybi03 junho 2024
você pode gostar
-
Pokemon X and Y Starters Fennekin, Froakie, and Chespin03 junho 2024
-
Haikyuu!!: To the Top ep14 – Anticipation - I drink and watch anime03 junho 2024
-
Jujutsu Chronicles Codes – We Love Freebies! – Gamezebo03 junho 2024
-
Amy Rose (Riders)03 junho 2024
-
Buy OMORI (PC) - Steam Gift - GLOBAL - Cheap - !03 junho 2024
-
The Game Awards 2023 - All Winners03 junho 2024
-
Roblox - Anime Brawl All Out Codes (september 2023) - Critical Hits03 junho 2024
-
Lendas do Galo: onde assistir ao jogo festivo de teste da Arena MRV03 junho 2024
-
Talleres Remedios vs CA San Miguel livescore 16 Oct 2023 - Live football results 24/703 junho 2024
-
Bearer Token Authentication and Authorization03 junho 2024