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

The syndrome caused by mutations in the CLPP gene is a multisystem disorder characterized by (complete) sensorineural hearing loss in both sexes and primary ovarian insufficiency in 46, XX females, and is known as Perrault syndrome. Some affected individuals also have neurological features such as peripheral neuropathy and ataxia. Variants in CLPP are also associated with another disorder characterised by sensorineural hearing loss, epilepsy and leukoencephalopathy.

Not all individuals with a mutation in the CLPP 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 CLPP gene.

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

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