title: Mowat-Wilson syndrome detected by using high resolution microarray.
abstract: Individuals with Mowat-Wilson syndrome (MWS; OMIM#235730) have characteristic facial features, a variety of congenital anomalies such as Hirschsprung disease, and intellectual disabilities caused by mutation or deletion of ZEB2 gene. This deletion or cytogenetic abnormality has been reported primarily from Europe, Australia and the United States, but not in Korea. Here we report a patient with characteristic facial features of MWS, developmental delay and spasticity. High resolution microarray analysis revealed 0.9 Mb deletion of 2q22.3 involving two genes: ZEB2 and GTDC1. This case shows the important role of high resolution microarray in patients with unexplained psychomotor retardation and/or facial dysmorphism. Knowledge about the most striking clinical signs and implementation of effective molecular tests like microarray could significantly increase the detection rate of new cases of MWS in Korea. This is the first reported case of MWS in Korea.
authors.affiliation: Department of Pediatrics, Inje University College of Medicine, Haeundae Paik Hospital, Busan, South Korea.
authors.forename: Jae Young
authors.initials: JY
authors.lastname: Park
authors.forename: Eun Hae
authors.initials: EH
authors.lastname: Cho
authors.forename: Eun Hee
authors.initials: EH
authors.lastname: Lee
authors.forename: You Sun
authors.initials: YS
authors.lastname: Kang
authors.forename: Kyung Ran
authors.initials: KR
authors.lastname: Jun
authors.forename: Yun Jung
authors.initials: YJ
authors.lastname: Hur
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005145:Face / Q000002:abnormalities; D019066:Facies; D005260:Female; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics; D025202:Molecular Diagnostic Techniques; D011596:Psychomotor Disorders / Q000175:diagnosis* / Q000235:genetics
keywords: GTDC1; MWS; Microarray; Mowat–Wilson syndrome; ZEB2; Zinc finger e-box protein 2; glycosyltransferase-like domain containing 1