This website provides information on patients with mutations in the LARS2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the LARS2 gene is a multisystem disorder characterized by sensorineural hearing loss in both sexes and primary ovarian insufficiency in 46, XX females, and is known as Perrault syndrome. Variants in LARS2 are also associated with lethal infantile multisystem failure.

Not all individuals with a mutation in the LARS2 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the LARS2 gene.

William G. Newman, MD, PhD, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester / NW Genomic Laboratory hub, Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, United Kingdom, William.Newman@mft.nhs.uk

Leigh A. M. Demain, PhD, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester / NW Genomic Laboratory hub, Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, United Kingdom, leigh.demain@manchester.ac.uk