1. Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.
- Author
-
Wild KT, Nomakuchi TT, Sheppard SE, Leavens KF, De León DD, and Zackai EH
- Subjects
- Female, Genetic Variation genetics, Genotype, Humans, Hyperinsulinism pathology, Infant, Infant, Newborn, Mutation genetics, Phenotype, Rubinstein-Taybi Syndrome pathology, Sequence Deletion genetics, E1A-Associated p300 Protein genetics, Genetic Predisposition to Disease, Hyperinsulinism genetics, Rubinstein-Taybi Syndrome genetics
- Abstract
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant genetic syndrome characterized by distinct facial features, broad thumbs, growth restriction, microcephaly, intellectual disability, and developmental delay. Pathogenic variants in both CREBBP and EP300 have been associated with RSTS. Here we present a case of a female with hyperinsulinism and features consistent with RSTS, found to have a pathogenic variant in EP300. While there have been a few rare case reports of hyperinsulinism in RSTS, we suggest that hyperinsulinism might be a more prominent feature in EP300 variant RSTS than previously recognized., (© 2021 Wiley Periodicals LLC.)
- Published
- 2021
- Full Text
- View/download PDF