MRPS22 and hypertrophic cardiomyopathy: Another study also reported that a patient with Cornelia de Lange-like dysmorphic features, brain abnormalities, and hypertrophic cardiomyopathy had a mutation in MRPS22. This study found that a mutation at a conserved site in the MRPS22 gene resulted in a p.Leu215Pro substitution, which seriously damaged the mitochondrial protein translation in fibroblasts and caused defects in OXPHOS complexes I, III, and IV.