Article
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
Clinical genetics - 1 Jul 2022
Torraco Alessandra, Morlino Silvia, Rizza Teresa, Di Nottia Michela, Bottaro Giorgia, Bisceglia Luigi, Montanari Arianna, Cappa Marco, Castori Marco, Bertini Enrico, Carrozzo Rosalba
Abstract excerpt
Genetic defect in the nuclear encoded subunits of cytochrome c oxidase are very rare. To date, most deleterious variants affect the mitochondrially encoded subunits of complex IV and the nuclear genes encoded for assembly factors. A biallelic pathogenic variant in the mitochondrial complex IV subunit COX5A was previously reported in a couple of sibs with failure to thrive, lactic acidosis and pulmonary...
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