Welcome to the Human Disease Genes website for SARS1. This website provides information for professionals, patients, and caregivers on conditions caused by mutations in the SARS1 gene, including clinical data, molecular data, management, and research options.

The syndrome caused by mutations in the SARS1 gene is a multisystem disorder primarily characterized by neurodevelopmental challenges, including global developmental delay, intellectual disability, early-onset seizures, and ataxia (impaired coordination). A key feature in the most common form of the disorder is microcephaly, which is a smaller-than-expected head.

The clinical spectrum is broad and continues to be defined. While the classic presentation is inherited in an autosomal recessive manner, other, rarer presentations have been identified. These include a form of complex spastic paraplegia (progressive stiffness and weakness in the legs) without microcephaly that can be inherited in an autosomal dominant fashion. Additional features can be present in some individuals and include hearing loss, heart problems (cardiomyopathy), and episodes of severe illness triggered by fever.

Not all individuals with a mutation in the SARS1 gene have all 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 SARS1 gene.

Jean-Marie Ravel, MD, PhD, Lorraine University, Centre Hospitalier Universitaire de Nancy, Medical Genetics Laboratory, Nancy, France, j.ravel@chru-nancy.fr