This website provides information on patients with mutations in the BCAP31 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the BCAP31 gene is a multisystem disorder characterized by severe intellectual disability (ID), dystonia, deafness, and central hypomyelination, delineating the deafness, dystonia and cerebral hypomyelination syndrome (DDCH). Because the BCAP31 gene is located on the X chromosome, there is a gender difference in clinical presentation. Males with missense variants exhibit a milder phenotype. Most patients with a loss of function variant have permanent or transient liver enzyme elevation. Carrier females may have a phenotype comprising learning difficulties, intellectual disability, and/or deafness.
Not all individuals with a mutation in the BCAP31 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 BCAP31 gene.
Laurent Villard, PhD, Marseille Medical Genetics Center (Inserm U1251), Marseille, France, email@example.com
Sandra Whalen, MD, Clinical Genetics, Trousseau Hospital, Paris, France, firstname.lastname@example.org