Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.

We report on an additional patient harboring a novel de novo nonsense mutation p.(Glu219*) in BRPF1. He presented with ID, bilateral iris colobomas, facial nerve palsy and severe hypoplasia of the corpus callosum. Our findings support previous findings of brain abnormalities in BRPF1-mutations and indicates coloboma and facial nerve palsy as possible additional features of IDDDFP syndrome. PMID: 31176769 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/31176769?dopt=Abstract

Source: European Journal of Medical Genetics - June 5, 2019 Category: Genetics & Stem Cells Authors: Demeulenaere S, Beysen D, De Veuster I, Reyniers E, Kooy F, Meuwissen M Tags: Eur J Med Genet Source Type: research