ESPE Abstracts

Background: Mosaic variegated aneuploidy syndrome（MVA）is a rare genetic disease characterized by mosaic aneuploidies, intrauterine growth restriction, developmental delay, microcephaly, facial dysmorphism, mental retardation, and susceptibility to tumor. It is autosomal recessive and caused by mutations in BUB1B, CEP57, and TRIP13. This study hereby presents a 9-year-old girl with intrauterine growth restriction, short stature, microcephaly, facial dysmorphism, brachydactyly and dental dysplasia, who was identified a novel nonsense mutation in CEP57.

Methods: We retrospectively analyzed the clinical data of a 9-year-old girl, genetic and karyotype analysis were performed.

Results: Karyotype analysis revealed 21 aneuploidies in 100 lymphocytes from peripheral blood. Whole-exome sequencing and Sanger sequencing revealed c.312T＞G, a novel homozygous nonsense mutation, leading to the termination of protein translation (p.Tyr104^*).

Conclusion: We present the first case of MVA in a patient with CEP57 mutation in China, identifying a novel homozygous missense mutation in CEP57 gene (p.Tyr104^*). The phenotypes were mildly different from those described in the literatures.