Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant

Abstract

MYRF monoallelic variants have been described in syndromic forms characterized by cardiac-urogenital syndrome and isolated nanophthalmos with/without minor systemic manifestations. We describe a large family with a paternally inherited pathogenic variant in MYRF that manifested as congenital diaphragmatic hernia (CDH), cardiac and urogenital abnormalities, and/or nanophthalmos with significant intrafamilial variability.

Keywords: MYRF; cardiac abnormalities; congenital diaphragmatic hernia; nanophthalmos; urogenital abnormalities.