Document Detail

A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.
MedLine Citation:
PMID:  17161965     Owner:  NLM     Status:  MEDLINE    
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.
Uluç Yis; Gökhan Uyanik; Semra Kurul; Eray Dirik; Erdener Ozer; Claudia Gross; Ute Hehr
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2006-12-11
Journal Detail:
Title:  European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society     Volume:  11     ISSN:  1090-3798     ISO Abbreviation:  Eur. J. Paediatr. Neurol.     Publication Date:  2007 Jan 
Date Detail:
Created Date:  2007-01-16     Completed Date:  2007-04-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9715169     Medline TA:  Eur J Paediatr Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  46-9     Citation Subset:  IM    
Faculty of Medicine, Department of Child Neurology, University of Dokuz Eylul, 35340 Izmir, Turkey.
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MeSH Terms
Codon, Nonsense / genetics*
Hydrocephalus / genetics*
Infant, Newborn
Mannosyltransferases / genetics*
Muscular Dystrophies / congenital*,  genetics*
Reg. No./Substance:
0/Codon, Nonsense; EC 2.4.1.-/Mannosyltransferases; EC O-mannosyltransferase

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