First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics
Por um escritor misterioso
Last updated 07 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 associated with a novel EP300 variant, BMC Medical Genetics](https://europepmc.org/articles/PMC9648057/bin/nihms-1843639-f0001.jpg)
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Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
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A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
![First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fejhg.2010.1/MediaObjects/41431_2010_Article_BFejhg20101_Fig2_HTML.jpg)
High frequency of copy number imbalances in Rubinstein–Taybi
First case report of inherited Rubinstein-Taybi syndrome
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Exon deletions of the EP300 and CREBBP genes in two children with
![First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics](https://i1.rgstatic.net/publication/307576168_Rubinstein_Taybi_Syndrome_in_an_Indian_Child_due_to_EP300_Gene_Mutation_Correspondence/links/5b9a2021a6fdcc59bf8e0859/largepreview.png)
PDF) Rubinstein Taybi Syndrome in an Indian Child due to EP300
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IJMS, Free Full-Text
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PDF) Identification of a novel de novo mutation of CREBBP in a
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PDF) Rubinstein–Taybi syndrome (CREBBP, EP300)
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