Abstract: 　Objective　To explore the clinical characteristics of Mowat-Wilson syndrome. Methods　The clinical data and molecular genetic test results of Mowat-Wilson syndrome in a child were retrospectively analyzed, and the related literature was reviewed. Results　A 3-year- and 10-month-old girl visited due to mental retardation and convulsions. She presented a distinctive facial appearance such as frontal bossing, hypertelorism, epicanthal folds, broad eyebrows, a broad nasal bridge, a prominent columella, a triangular chin and uplifted earlobes. Cardiovascular ultrasonography showed a bicuspid aortic valve malformation. Cranial magnetic resonance imaging revealed mild bilateral ventricular enlargement. Electroencephalogram monitoring showed that the epileptic discharge was localized in frontal and anterior temporal lobes. Genome sequencing and bioinformatics analysis showed a heterozygous mutation, c.164 delC, in exon 3 of ZEB2 gene, which resulted in the amino acid change of p.Pro55fs, and Mowat-Wilson syndrome was confirmed. Conclusion　The ZEB2 gene mutation profile of Chinese Mowat-Wilson syndrome has been expanded.

Key words: Mowat-Wilson syndrome;　ZEB2 gene;　mutation