First case report of inherited Rubinstein-Taybi syndrome
Por um escritor misterioso
Last updated 05 julho 2024
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Background Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50–60% and 5–8% of cases, respectively. The majority of cases are de novo heterozygous mutations. Case presentation Here we describe a familial RSTS case, associated with a novel EP300 mutation. The proband was a 9 years old female, with mild learning difficulties. Her mother, who also had learning difficulties, was found to have short and broad thumbs. MLPA and panel-based NGS of CREBBP and EP300 were performed. A novel heterozygous frameshift mutation in exon 31 of the EP300 gene (c.7222_7223del; p.(Gln2408Glufs*39)) was found in both. Conclusions This case represents the first case of inherited EP300-RSTS. The location of the frameshift deletion not affecting HAT domain and PHD finger, could explain the mild phenotype and the well-preserved intelligence. These patients are mildly affected, and this case highlights the possible missed diagnosis. We would recommend molecular testing of apparently healthy parents, and in the case of inherited mutations, of all adult first degree relatives at risk.
![First case report of inherited Rubinstein-Taybi syndrome](https://onlinelibrary.wiley.com/cms/asset/562b7209-9329-442d-8b0f-e2027f7f9dd7/ced13871-fig-0001-m.jpg)
First case of Rubinstein–Taybi syndrome with desquamation
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First case report of inherited Rubinstein-Taybi syndrome
![First case report of inherited Rubinstein-Taybi syndrome](https://static.hindawi.com/articles/crid/volume-2012/483867/figures/483867.fig.003a.jpg)
Rubinstein-Taybi Syndrome: A Case Report
![First case report of inherited Rubinstein-Taybi syndrome](https://www.frontiersin.org/files/Articles/848879/fgene-13-848879-HTML-r1/image_m/fgene-13-848879-g002.jpg)
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
![First case report of inherited Rubinstein-Taybi syndrome](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fejhg.2016.14/MediaObjects/41431_2016_Article_BFejhg201614_Fig1_HTML.jpg)
Mosaic CREBBP mutation causes overlapping clinical features of
![First case report of inherited Rubinstein-Taybi syndrome](https://faoj.files.wordpress.com/2008/06/rstsfig1b.jpg)
Rubinstein-Taybi Syndrome: A case report
![First case report of inherited Rubinstein-Taybi syndrome](https://onlinelibrary.wiley.com/cms/asset/c3a2214f-ede5-48de-8afb-b397aa2748d4/bjd13124-fig-0001-m.jpg)
Keloids in Rubinstein–Taybi syndrome: a clinical study - Kar
![First case report of inherited Rubinstein-Taybi syndrome](https://upload.wikimedia.org/wikipedia/commons/1/15/Taybi.jpg)
Rubinstein–Taybi syndrome - Wikipedia
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the
![First case report of inherited Rubinstein-Taybi syndrome](http://www.forgottendiseases.org/assets/RubTay/img/RubTay_PatientB_Bentivegna_BMCMedGen_2006.jpg)
Forgotten Diseases Research Foundation
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Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
![First case report of inherited Rubinstein-Taybi syndrome](https://jmg.bmj.com/content/jmedgenet/39/7/496/F1.large.jpg)
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
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Rubinstein-Taybi Syndrome: A Pediatric Case Report
![First case report of inherited Rubinstein-Taybi syndrome](https://www.mdpi.com/genes/genes-12-00968/article_deploy/html/images/genes-12-00968-g001.png)
Genes, Free Full-Text
![First case report of inherited Rubinstein-Taybi syndrome](https://ars.els-cdn.com/content/image/1-s2.0-S1110863012000316-gr7.jpg)
Facial dysmorphism, skeletal anomalies, congenital glucoma
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