title: Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.
abstract: Walker-Warburg Syndrome (WWS) is an alpha-dystroglycan deficient congenital muscular dystrophy that is associated with brain and eye abnormalities. Patients present with hypotonia, weakness, developmental delay, mental retardation and occasional seizures. Other abnormalities were also described including cleft lip and palate. Mutations in POMT1, POMT2, fukutin, FKRP and LARGE genes are found in 20-30% of children with WWS. We report a novel mutation in POMT1 gene and provide further evidence that WWS with cleft lip and palate is associated with POMT1 mutations. We recommend POMT1 analysis in WWS cases associated with cleft lip and palate when considering which gene to sequence first.
authors.affiliation: Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont., Canada M5G 1X8. jiri.vajsar@sickkids.ca
authors.forename: Jiri
authors.initials: J
authors.lastname: Vajsar
authors.forename: Berivan
authors.initials: B
authors.lastname: Baskin
authors.forename: Kathryn
authors.initials: K
authors.lastname: Swoboda
authors.forename: Doug W
authors.initials: DW
authors.lastname: Biggar
authors.forename: Harry
authors.initials: H
authors.lastname: Schachter
authors.forename: Peter N
authors.initials: PN
authors.lastname: Ray
mesh_terms: D001921:Brain / Q000473:pathology; D002971:Cleft Lip / Q000235:genetics* / Q000473:pathology; D002972:Cleft Palate / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000235:genetics; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008364:Mannosyltransferases / Q000235:genetics*; D009154:Mutation / Q000235:genetics / Q000502:physiology; D009223:Myotonic Dystrophy / Q000150:complications / Q000235:genetics*; D013577:Syndrome
chemical_list: D004247:DNA; D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase