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

Neerja GuptaMounika EndrakantiNoopur GuptaVatsla DadhwalKamal NainiSmita ManchandaRagib KhanManisha Jana
Published in: American journal of medical genetics. Part A (2022)
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.
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