First case report of inherited Rubinstein-Taybi syndrome
Por um escritor misterioso
Last updated 26 outubro 2024
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.
High frequency of copy number imbalances in Rubinstein–Taybi
Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment
Rubenstein-Taybi syndrome, Psychology Wiki
Facial dysmorphism, skeletal anomalies, congenital glucoma
Rubinstein–Taybi syndrome - Wikipedia
PDF) A case of Rubinstein-Taybi Syndrome with a CREBbinding
PDF) Case Report: Rubinstein-Taybi Syndrome
PDF) An unusual presentation of Rubinstein-Taybi Syndrome with
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in
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