title: Mowat-Wilson syndrome: the first two Malaysian cases.
abstract: Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects. Some cases also present with epilepsy, growth retardation with microcephaly and speech impairment. MWS was first described in 1998 by Mowat et al, and approximately 180 cases have been reported as of August 2008. The syndrome occurs as a result of heterozygous mutations or deletions in the zinc finger E-box-binding homeobox 2 gene, ZEB2, previously called ZFHX1B (SIP1). Most cases reported so far were sporadic occurrences; however, rare cases of sibling recurrence have been cited. The facial phenotype is particularly important for the initial clinical diagnosis and provides the hallmark, warranting ZEB2 mutational analysis even in the absence of Hirschsprung disease. We present the first two molecularly confirmed Malaysian MWS patients, one of whom has a novel mutation.
authors.affiliation: Department of Clinical Genetics, Pediatric Institute, Kuala Lumpur Hospital, Jalan Pahang, Kuala Lumpur 50586, Malaysia. saras329@hotmail.com
authors.forename: S
authors.initials: S
authors.lastname: Balasubramaniam
authors.forename: W T
authors.initials: WT
authors.lastname: Keng
authors.forename: L H
authors.initials: LH
authors.lastname: Ngu
authors.forename: L G
authors.initials: LG
authors.lastname: Michel
authors.forename: G
authors.initials: G
authors.lastname: Irina
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003248:Constipation; D004827:Epilepsy / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006627:Hirschsprung Disease / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008296:Malaysia; D012097:Repressor Proteins / Q000235:genetics; D000074165:Zinc Finger E-box Binding Homeobox 2
chemical_list: D018398:Homeodomain Proteins; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2