A novel CREBBP mutation and its phenotype in a case of Rubinstein
Por um escritor misterioso
Last updated 18 julho 2024
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12920-022-01335-4/MediaObjects/12920_2022_1335_Fig3_HTML.png)
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://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12920-022-01335-4/MediaObjects/12920_2022_1335_Fig3_HTML.png)
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2F1471-2350-7-77/MediaObjects/12881_2006_Article_185_Fig5_HTML.jpg)
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2F1471-2350-7-77/MediaObjects/12881_2006_Article_185_Fig1_HTML.jpg)
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://d3i71xaburhd42.cloudfront.net/7433076fccc7986718cb36b838ca499f9232866e/2-Figure1-1.png)
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://ars.els-cdn.com/content/image/1-s2.0-S1534580718301072-gr7.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://pub.mdpi-res.com/genes/genes-12-00968/article_deploy/html/images/genes-12-00968-g006.png?1626846418)
Genes, Free Full-Text
![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-g001.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://media.springernature.com/m685/springer-static/image/art%3A10.1007%2Fs00439-015-1542-9/MediaObjects/439_2015_1542_Fig3_HTML.gif)
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://www.mdpi.com/ijms/ijms-16-05697/article_deploy/html/images/ijms-16-05697-g002a-1024.png)
IJMS, Free Full-Text
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Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fsj.ejhg.5201791/MediaObjects/41431_2007_Article_BF5201791_Fig1_HTML.jpg)
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://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fejhg.2010.1/MediaObjects/41431_2010_Article_BFejhg20101_Fig1_HTML.jpg)
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
![A novel CREBBP mutation and its phenotype in a case of Rubinstein](https://www.mdpi.com/cancers/cancers-15-01219/article_deploy/html/images/cancers-15-01219-g001-550.jpg)
Cancers, Free Full-Text
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De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
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