title: Mowat-Wilson syndrome affecting 3 siblings.
abstract: We herein report 3 cases of Mowat-Wilson syndrome, characterized by distinct facial features, severe psychomotor retardation, and epilepsy, recurring in 3 siblings from the same parents. The proband was a 15-month-old boy, the youngest of 3 children (2 elder sisters), who was referred to our hospital for the treatment of severe seizures. The clinical features and course of these 3 siblings were compatible with those of previously reported Mowat-Wilson syndrome patients, and all siblings had the same E87X nonsense mutation in ZFHX1B, whereas their mother did not show the mutation. Because Mowat-Wilson syndrome has been caused by de novo mutation in ZFHX1B, germ-line mosaicism should be considered if recurrence in siblings is observed.
authors.affiliation: Department of Pediatrics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo.
authors.forename: Motoko
authors.initials: M
authors.lastname: Ohtsuka
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Oguni
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Ito
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Nakayama
authors.forename: Mari
authors.initials: M
authors.lastname: Matsuo
authors.forename: Makiko
authors.initials: M
authors.lastname: Osawa
authors.forename: Kayoko
authors.initials: K
authors.lastname: Saito
authors.forename: Yasukazu
authors.initials: Y
authors.lastname: Yamada
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Wakamatsu
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics*; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D019066:Facies; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D010375:Pedigree; D012097:Repressor Proteins / Q000235:genetics*; D035781:Siblings; D013577:Syndrome; D000074165:Zinc Finger E-box Binding Homeobox 2
chemical_list: D018389:Codon, Nonsense; D018398:Homeodomain Proteins; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2