title: A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.
abstract: Walker--Warburg syndrome (WWS), the most severe alpha-dystroglycanopathy, is characterized by brain and eye anomalies, and congenital muscular dystrophy (CMD). So far at least four genes (POMT1, POMT2, Fukutin, and FKRP gene) have been implicated in WWS, accounting for about 30% of all cases. We report a male patient with WWS resulting from a homozygous nonsense mutation (R514X) in the POMT1 gene. The patient had congenital hydrocephalus which was detected at 29 weeks of gestation. A brain MRI obtained after birth revealed type II lissencephaly, hydrocephalus, and pontocerebellar hypoplasia. The case also exhibited severe ocular malformations and muscular hypotonia due to CMD.
authors.affiliation: Faculty of Medicine, Department of Child Neurology, University of Dokuz Eylul, 35340 Izmir, Turkey. ulyis@yahoo.com
authors.forename: Uluç
authors.initials: U
authors.lastname: Yis
authors.forename: Gökhan
authors.initials: G
authors.lastname: Uyanik
authors.forename: Semra
authors.initials: S
authors.lastname: Kurul
authors.forename: Eray
authors.initials: E
authors.lastname: Dirik
authors.forename: Erdener
authors.initials: E
authors.lastname: Ozer
authors.forename: Claudia
authors.initials: C
authors.lastname: Gross
authors.forename: Ute
authors.initials: U
authors.lastname: Hehr
mesh_terms: D018389:Codon, Nonsense / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D008364:Mannosyltransferases / Q000235:genetics*; D009136:Muscular Dystrophies / Q000151:congenital* / Q000235:genetics*; D013577:Syndrome
chemical_list: D018389:Codon, Nonsense; D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase