Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation

Abstract

A. The Comprehensive Lissencephaly Panel performed on our patient (The University of Chicago Genetic services Laboratory) identified a denovo likely pathogenic variant (c.4501A>T; p.Ile1501Phe) in the DYNC1H1 gene (NM_001376.4). The Isoleucine at 1501 position is highly conserved through species and most in silico algorithms predict to be deleterious to the protein function. Mutationtaster (http://www.mutationtaster.org) , Provean (http://provean.jcvi.org) , Polyphen2 (http://genetics.bwh.harvard.edu/pph2/)deleterious, SIFT (https://sift.bii.astar.edu.sg) -tolerated