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rubinstein taybi

Rubinstein-Taybi syndrome in a Saudi boy with distinct features

Por um escritor misterioso

Descrição
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
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
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Autism Spectrum Disorder
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
File:Rubinstein-Taybi Syndrome2.jpg - Wikimedia Commons
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Facial features of Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Patient 1 showing a mild RTS variant (incomplete RTS). (A, B) Note
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Deep-learning approach to detect childhood glaucoma based on periocular photograph
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