Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

We present six affected individuals with bi-allelic truncating variants in NUP188 and strikingly similar phenotypes and clinical courses, representing a recognizable genetic syndrome; the individuals are from four unrelated families.

Source: The American Journal of Human Genetics - April 8, 2020 Category: Genetics & Stem Cells Authors: Alison M. Muir, Jennifer L. Cohen, Sarah E. Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed, Dan Doherty, Danielle DeMarzo, Christina R. Fagerberg, Lars Kj ærsgaard, Martin J. Larsen, Patrick Rump, Katharina Löhner, Yoel Hirsch, David A. Zeevi, Tags: Article Source Type: research