Rubinstein-Taybi syndrome: clinical features, genetic basis
Por um escritor misterioso
Last updated 20 outubro 2024
Background Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. However, no standard diagnostic criteria are available for RSTS. In this review, we summarized the clinical features and genetic basis of RSTS and highlighted areas for future studies on an appropriate diagnostic protocol and follow-up care for RSTS. Discussion RSTS is primarily characterized by delayed growth in height and weight, microcephaly, dysmorphic facial features, and broad thumbs and big toe. Over 90% RSTS individuals with disabilities survive to adulthood, but healthcare for these patients is particularly complex, time-consuming, and costly. In addition, no standard diagnostic criteria and follow-up care guidelines are available for RSTS. It has been shown that mutations in the genes encoding the cyclic-AMP-regulated enhancer binding protein (CREBBP) and the E1A-binding protein p300 (EP300) contributed to the development of RSTS. Therefore, genetic tests are useful for the diagnosis of RSTS, although most RSTS cases are currently diagnosed based on clinical features. Summary The clinical features of RSTS have been extensively studied, which significantly contributes to the diagnosis of this extremely rare syndrome. However, the pathogenesis and genotype-phenotype associations of RSTS are largely unknown. Therefore, multicenter studies and international cooperation are highlighted for better understanding of this disease, establishing standard diagnostic criteria, and providing professional management and follow-up care of RSTS.
Rubinstein–Taybi syndrome in diverse populations - Tekendo
Rubinstein-Taybi syndrome with scoliosis treated with single-stage
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Rubinstein-Taybi syndrome: clinical features, genetic basis
Novel heterozygous variants in the EP300 gene cause Rubinstein
Mosaic CREBBP mutation causes overlapping clinical features of
Cornelia de Lange Syndrome: What Is It, Causes, Signs, Symptoms
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
Cureus Rubinstein-Taybi Syndrome Associated with Pituitary
PDF) Oro-dental features as useful diagnostic tool in Rubinstein
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Rubinstein–Taybi syndrome: clinical and molecular overview
IJMS, Free Full-Text
Recomendado para você
-
PDF) Rubinstein-Taybi syndrome: Dental manifestations and management20 outubro 2024
-
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder20 outubro 2024
-
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum20 outubro 2024
-
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome20 outubro 2024
-
Microdeletions and mutations of CREBBP (CBP) gene can cause20 outubro 2024
-
Frontiers BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome20 outubro 2024
-
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library20 outubro 2024
-
Mosaic CREBBP mutation causes overlapping clinical features of20 outubro 2024
-
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library20 outubro 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 Genetics20 outubro 2024
você pode gostar
-
Classroom of the Elite – Page 2 – In Asian Spaces20 outubro 2024
-
Subdued Fangirling: Encouragement of Climb (Yama no Susume) Final Thoughts--Like a Breath of Mountain Air20 outubro 2024
-
Pokémon Scarlet & Violet's Box Legendaries Are the Series' Best20 outubro 2024
-
The King of Fighters '97, COMBOS20 outubro 2024
-
𝑮𝒐𝒌𝒖 𝒗𝒔 𝑽𝒆𝒈𝒆𝒕𝒂 𝑴𝒂𝒏𝒈𝒂 𝑬𝒅𝒊𝒕𝒊𝒐𝒏 🔥 ✨ Follow me @trunks.ik for more awesome dragon ball edits like this! 🪐 . . ✨ Edit by : @trunks.ik . . ✨ Tag…20 outubro 2024
-
Tokyo 24th Ward (Tokyo 24-ku) 3 (Complete Production Limited Edition) [Blu-ray] – Japanese Book Store20 outubro 2024
-
Los 20 Personajes de Anime Más Populares20 outubro 2024
-
Super Mario Bros: Veja as referências de todos os trailers do filme20 outubro 2024
-
Nagi no Asukara Episode 26 (End) - Ganbare Anime20 outubro 2024
-
Livro para Colorir de Dia das Bruxas 1 & 2 by Snels, Nick20 outubro 2024