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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