This website provides information on individuals with variants in the DCC (deleted in colorectal carcinoma, DCC netrin 1 receptor) gene, including clinical data, molecular data, management, and research options.
Monoallelic or biallelic germline variants in the DCC gene disrupt commissural axon guidance, resulting in impaired development and function of tracts such as corticospinal tracts and the corpus callosum.
Monoallelic germline variants in DCC are associated with congenital mirror movements, isolated agenesis of corpus callosum or both. Mirror movements are involuntary contralateral movements that mirror voluntary ones. Agenesis of corpus callosum (the partial or complete absence of the corpus callosum) is a finding on neuroimaging and may be associated with a range of intellectual disabilities (normal to borderline impaired).
Biallelic germline variants in the DCC gene are associated with developmental split brain syndrome, characterized by horizontal gaze palsy, progressive scoliosis, developmental delay and intellectual disability.
Not all individuals with a pathogenic variant in DCC have these features (incomplete penetrance).
This website was created to share and collect information about clinic, management, and research projects to gather more knowledge and provide better treatment of individuals with pathogenic variants in DCC.
Saumya Shekhar Jamuar, MD, Women’s and Children’s Hospital, Singapore, Singapore, firstname.lastname@example.org
Ashley Pamela Lesle Marsh, Molecular geneticist, Murdoch Children's Research Institute, Melbourne, Australia, email@example.com