Biallelic mutations in the CEP57 gene are responsible for a recessive multisystem disorder called MVA2 (MIM:614114) syndrome, a rare autosomal recessive disorder, reported in only 13 individuals. It is characterized by the presence of a variable percentage (25–50%) of chromosome gains and losses in somatic cells, leading to constitutional mosaic aneuploidies especially trisomies, double trisomies, and monosomies.
MVA2 syndrome is clinically characterized by a complex phenotype that includes pre and postnatal growth retardation, characteristic facial features with triangular face, prominent forehead, micrognathia, low set ears and sparse hair. Cardiac, vascular and skeletal manifestations also seem to be part of the phenotype, as well as endocrine abnormalities such as hypothyroidism and GH deficiency with or without pituitary anomalies. A higher risk of embryonal tumours has not been observed in these patients.
Mutations in CEP57 are inherited in an autosomal recessive manner. All affected individuals with MVA2 inherited the CEP57 pathogenic variants from each parent. Thus, the recurrence risk for future pregnancies is 25%.
CEP57