A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.
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.
Yis
Uluç
U
Faculty of Medicine, Department of Child Neurology, University of Dokuz Eylul, 35340 Izmir, Turkey. ulyis@yahoo.com
Uyanik
Gökhan
G
Kurul
Semra
S
Dirik
Eray
E
Ozer
Erdener
E
Gross
Claudia
C
Hehr
Ute
U
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
D018389:Codon, Nonsense; D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase