First case report of inherited Rubinstein-Taybi syndrome

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.

A novel CREBBP mutation and its phenotype in a case of Rubinstein

Canal Dehiscense

Rubinstein-Taybi syndrome: MedlinePlus Genetics

Novel heterozygous variants in the EP300 gene cause Rubinstein

Genes, Free Full-Text

Rubinstein-Taybi Syndrome: A Complete Overview — DermNet

IJMS, Free Full-Text

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With

Frontiers Case report: A preterm infant with rubinstein-taybi

First case report of inherited Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome: MedlinePlus Genetics