Article
A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2 -Related Mitochondrial Disorder.
American journal of medical genetics. Part A - 1 Nov 2025
Rossi Vittoria, Brooks Dan, Dai Hongzheng, Mizerik Elizabeth, Salazar Karla, Davila-Williams Daniel, Ben-Moshe Yishay, Lalani Seema R, Elsea Sarah H, Gijavanekar Charul, Scott Daryl A, Machol Keren, Bekheirnia Mir Reza, Scaglia Fernando
Abstract excerpt
POLG2 encodes an accessory subunit in DNA polymerase gamma that is required for mitochondrial DNA synthesis. Monoallelic pathogenic variants in POLG2 are associated primarily with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4 (PEOA4, MIM #610131). We report a rare case of severe infantile hepatocerebral syndrome associated with biallelic variants in POLG2. The...
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