First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics

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.

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With

PDF) Rubinstein-Taybi syndrome medical guidelines

PDF) De novo variation in EP300 gene cause Rubinstein-Taybi

A case with Rubinstein-Taybi syndrome: A novel frameshift mutation

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi

Frontiers Behavioral and neuropsychiatric challenges across the

Rubinstein–Taybi syndrome European Journal of Human Genetics

Rubinstein-Taybi syndrome in a Saudi boy with distinct features

EP300‐related Rubinstein–Taybi syndrome: Highlighted rare

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome

Genes, Free Full-Text