A novel CREBBP mutation and its phenotype in a case of Rubinstein
Por um escritor misterioso
Last updated 07 julho 2024
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Background This study was to report a novel CREBBP mutation and phenotype in a child with Rubinstein–Taybi syndrome. Methods Case report of a 9-year-old boy. Results We described the patient’s clinical manifestations in detail, and found that in addition to the typical systemic manifestations of the syndrome, the outstanding manifestation of the child was severe intellectual deficiency and prominent ocular abnormalities. Whole-exome sequencing and sanger sequencing were performed on the patient and his parents, a large intragenic deletion, covering the exon 1 region and part of the intron 1 region of the TRAP1 gene, and the entire region from intron 27 to exon 30 of the CREBBP gene (chr16:3745393-3783894) was identified on the patient. This mutation affected the CREBBP histone acetyltransferase (HAT) domain. Conclusions This findings in our patient add to the spectrum of genetic variants described in Rubinstein–Taybi syndrome and present a RSTS patient with various ocular anomalies including early onset glaucoma.
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://onlinelibrary.wiley.com/cms/asset/4629f96b-a83f-4b49-987f-05cdaa206dd4/humu22922-fig-0003-m.jpg)
From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein–Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks - Negri - 2016 - Human Mutation - Wiley Online Library
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://onlinelibrary.wiley.com/cms/asset/05409c89-154a-45cc-97d1-3aa0ad889900/cge13493-fig-0002-m.jpg)
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://ars.els-cdn.com/content/image/3-s2.0-B9780123914941000021-f02-04-9780123914941.jpg)
Rubinstein-Taybi Syndrome - an overview
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://www.researchgate.net/publication/51704261/figure/fig1/AS:277544717832192@1443183225131/Localisation-of-nine-CREBBP-mutations-six-of-them-of-novel-description-in-patients-with.png)
Localisation of nine CREBBP mutations (six of them of novel
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](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
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://www.mdpi.com/genes/genes-12-00968/article_deploy/html/images/genes-12-00968-g002-550.jpg)
Genes, Free Full-Text
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A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
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Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://www.researchgate.net/publication/353684626/figure/tbl1/AS:1053068019912705@1628082389226/Clinical-and-molecular-findings-of-the-six-patients-with-Rubinstein-Taybi-Syndrome.png)
Clinical and molecular findings of the six patients with Rubinstein
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://d3i71xaburhd42.cloudfront.net/bdc4e5f12f089aae1ed251573499435372ab347a/3-Figure3-1.png)
Figure 2 from A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://jmg.bmj.com/content/jmedgenet/39/7/496/F2.large.jpg)
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://ars.els-cdn.com/content/image/1-s2.0-S1534580718301072-gr2.jpg)
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://i1.rgstatic.net/publication/6581909_Genetic_heterogeneity_in_Rubinstein-Taybi_syndrome_Delineation_of_the_phenotype_of_the_first_patients_carrying_mutations_in_EP300/links/00b7d536250332494f000000/largepreview.png)
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300
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Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://pub.mdpi-res.com/genes/genes-12-00968/article_deploy/html/images/genes-12-00968-g004.png?1626846418)
Genes, Free Full-Text
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