Deletion of 2q22.2q22.3 in Mowat–Wilson Syndrome: A Case Report and Review of the Literature

Abstract

Abstract Mowat–Wilson syndrome (MWS; Online Mendelian Inheritance in Man #235730) is a rare disorder characterized by developmental delay, severe intellectual disability, distinctive facial dysmorphism, and multiple associated abnormalities caused by mutation or deletion of ZEB2 gene. Here we report a 13 months old boy with characteristic facial features of MWS, global developmental delay, peculiar behavior, microcephaly, and hypospadias. Array comparative genomic hybridization (CGH) revealed a 5.7-Mb deletion of 2q22.2q22.3 region. The deletion contains 10 genes, including LRP1B, KYNU, ARHGAP15, GTDC1, ZEB2, ZEB2-AS1, TEX41, MBD5, ORC4, and ACVR2A. Our case shows the utility of array CGH in identifying such complex phenotype.