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Rubinstein-Taybi syndrome is a rare congenital disorder, causing intellectual disability, postnatal growth delay, microcephaly, broad thumbs and halluces, dysmorphic facial features, and an increased risk of tumour formation. Recently, hyperinsulinaemic hypoglycaemia has been reported in patients with Rubinstein-Taybi syndrome (4). It is an autosomal dominant disorder; 50% and 70% of individuals with Rubinstein-Taybi syndrome have a heterozygous mutation in the CREBBP gene, whilst approximately 3% of individuals have a heterozygous mutations in EP300 (5).
Key References
- Costain G, Kannu P, Bowdin S. Genome-wide sequencing expands the phenotypic spectrum of EP300 variants. Eur J Med Genet. 2018;
- Wincent J, Luthman A, Van Belzen M, Van Der Lans C, Albert J, Nordgren A, et al. CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with rubinstein–taybi syndrome. Mol Genet Genomic Med. 2016;