This website provides information on patients with mutations in the C2orf69 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the C2orf69 gene is a multisystem disorder characterized by congenital brain malformations, especially cerebellar atrophy and hypomyelination, which becomes evident during the course of the disease. Affected children are microcephalic and show a severe developmental delay, which may also be accompanied by other neurological disorders, including epilepsy and muscular hypotonia. Particularly characteristic of the clinical picture is the development of aseptic autoinflammations, especially in the joints, and the occurrence of organ dysfunctions, such as liver dysfunctions and hormone disorders, e.g. thyroid dysfunctions. The prognosis of the affected children is poor. Many die early in childhood in the course of fulminant autoinflammation and multi-organ failure.

Not all individuals with a mutation in the C2orf69 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 C2orf69 gene.

Miriam Elbracht, MD, Institute for Human Genetics and Genomic Medicine, Clinical Genomics, Aachen, Germany, mielbracht@ukaachen.de

Florian Kraft, PhD, Institute for Human Genetics and Genomic Medicine, Aachen, Germany, fkraft@ukaachen.de