Sequencing for a HUPRA syndrome patient and his family

Hyperuricemia, pulmonary hypertension, and renal failure in infancy and alkalosis syndrome (HUPRA syndrome) is an ultrarare mitochondrial disease that is characterized by hyperuricemia, pulmonary hypertension, renal failure and alkalosis. In this patient, whole-exome sequencing revealed novel compound heterozygous variants of SARS2 (c.1205G>A (p.Arg402His) and c.680G>A (p.Arg227Gln)).