Identification of a mutation in LARS as a novel cause of infantile hepatopathy

► We studied 6 patients from an Irish Traveller family with an infantile hepatopathy. ► Despite their multisystem presentation, the patients have normal mitochondria. ► Homozygosity mapping and whole exome sequencing were performed. ► We identified a mutation in LARS as a new cause of infantile hepatopathy. ► Mutation testing of LARS should be considered in patients with infantile hepatopathy.