Abstract: Objective　To investigate the clinical and genetic features of two patients diagnosed with Mowat-Wilson syndrome (MWS). Methods　Clinical data of two patients with Mowat-Wilson syndrome were collected, and gene mutations and microdeletion/microduplication were analyzed by next generation sequencing (NGS) and chromosomal microarray analysis. Results　Two patients (a boy and a girl) aged 3 years old and 1 year and 4 months old with global developmental delay were recruited in this study. The patients presented with mental retardation, motor and speech delay, hypotonia, cardiac malformation and genitourinary malformation, and both patients had corpus callosum dysplasia. Although electroencephalogram suggests slow spikes and slow waves, epileptic symptoms are not present in the patient 1. Genomic CNVs tests found a 1.95Mb loss in 2q22.3 region, that include ZEB2 gene region, and the deletion was found to be de novo using real-time PCR. A de novo heterogeneous mutation in ZEB2 gene (IVS1-2A>G) was found in patient 2 using NGS. Conclusion　Patient diagnosed with Mowat-Wilson syndrome often has abnormal facial features, language and motor development delay, multiple malformations, callosal dysplasia, and so on. Gene detection is helpful for diagnosis.

Key words: Mowat-Wilson syndrome;　clinical phenotype;　gene detection