This website provides information on patients with mutations in the CPLANE1gene, including clinical data, molecular data, management and research options.
Joubert syndrome caused by mutations in various genes including the CPLANE1gene is a multisystem disorder characterized by developmental delay, hypotonia, oculomotor apraxia, abnormal breathing patterns, and a specific brain malformation on brain MRI: the “molar tooth sign”.
The presence of truncated variants in CPANE1is associated with oral-facial-digital syndrome type VI and results in a severe phenotype and early death.
Not all individuals with a mutation in the CPLANE1gene 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 CPLANE1gene.
Kento Matoba, MD, Kobe University Graduate School of Medicine, Kobe, Japan, kmatoba@med.kobe-u.ac.jp
Norio Chihara, MD, PhD, Kobe University Graduate School of Medicine, Kobe, Japan, chiharan@med.kobe-u.ac.jp
Masayuki Itoh, MD, PhD, National Center of Neurology and Psychiatry, Tokyo, Japan, itoh@ncnp.go.jp