First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics
Por um escritor misterioso
Descrição
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
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with
RSTS Encyclopedia MDPI
PDF) Rubinstein-Taybi syndrome medical guidelines
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Evaluation of Ayres Sensory Integration® Intervention on Sensory
Rubinstein–Taybi syndrome: clinical and molecular overview
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP
Inheritance and variable expression in Rubinstein–Taybi syndrome
Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical
Management of neuroendocrine tumor in a patient with Rubinstein
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the
Human genetics and molecular genomics of Chiari malformation type
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2
de
por adulto (o preço varia de acordo com o tamanho do grupo)
