Am J Med Genet A

. 2022 Apr 1. doi: 10.1002/ajmg.a.62744. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/35365939/

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

Neerja Gupta ¹, Mounika Endrakanti ¹, Noopur Gupta ², Vatsla Dadhwal ³, Kamal Naini ¹, Smita Manchanda ⁴, Ragib Khan ², Manisha Jana ⁴Affiliations expand

• PMID: 35365939
• DOI: 10.1002/ajmg.a.62744

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.

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