Due to the recent description of MVA2 syndrome and the rarity of this condition, it is only possible to offer general advice based on the clinical features observed in patients. There are no specific clinical guidelines for treatment of individuals carrying pathogenic variants in MVA2. However, endocrine and cardiovascular follow-up is highly recommended.
Mutations in CEP57 are inherited in an autosomal recessive manner, which means an affected patient will carry two faulty copies of the gene. All affected individuals with MVA2 inherited one the CEP57 pathogenic variants from each parent. Thus, the recurrence risk for future pregnancies is 25%. Prenatal testing and preimplantation genetic diagnosis are feasible.
CEP57