This website provides information on patients with mutations in the CEP57 gene, including clinical data, molecular data, management and research options.
Biallelic mutations in the CEP57 gene are responsible for a recessive multisystem disorder called Mosaic variegated aneuploidy 2 (MVA2) syndrome, characterized by growth retardation, typically of prenatal onset, distinctive facial features, endocrine, cardiovascular and skeletal abnormalities associated with mosaic aneuploidies involving multiple chromosomes and tissues resulting from defects in cell division. Not all individuals with a mutation in the CEP57 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 CEP57 gene.
Fernando Santos-Simarro, MD, PhD, Clinical Genetics, Hospital Universitari Son Espases, Palma de Mallorca, Spain, firstname.lastname@example.org
Marta Pacio Miguez, Ms, Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Madrid, Spain, email@example.com
María Palomares Bralo, PhD, Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Madrid, Spain, firstname.lastname@example.org
Anna María Cueto-González, MD, PhD, Departamento de Genética Clínica y Molecular, Hospital Universitari Vall d’Hebron, Barcelona, Spain, email@example.com