Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent <scp><i>MYRF</i></scp> variant
Neerja Gupta, Neerja Gupta, Mounika Endrakanti, Noopur Gupta, Noopur Gupta, Vatsla Dadhwal, Kamal Naini, Smita Manchanda, Ragib Khan, Manisha Jana
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.
Topics & Concepts
Genitourinary systemCongenital diaphragmatic herniaDiaphragmatic herniaBiologyMedicinePathologyGeneticsInternal medicinePhysiologyFetusHerniaPregnancySurgeryGenetic and Kidney Cyst DiseasesConnective tissue disorders researchCongenital Diaphragmatic Hernia Studies