{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T14:41:03Z","timestamp":1773412863406,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,12,19]],"date-time":"2007-12-19T00:00:00Z","timestamp":1198022400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2008,2]]},"abstract":"<jats:p>Walker\u2013Warburg syndrome (WWS) is an autosomal recessive disorder characterized by congenital muscular dystrophy, brain malformations and structural abnormalities of the eye. We have studied two WWS patients born to non\u2010consanguineous parents, and in both cases, we identified mutations in the <jats:italic>fukutin<\/jats:italic> gene responsible for this syndrome. One of the patients carries a homozygous\u2010single nucleotide insertion that produces a frameshift, being this the first time that this insertion has been described in homozygosis and causing a WWS phenotype. The other patient carries two novel mutations, one being a point mutation that produces an amino acid substitution, while the other is a deletion in the 3\u2032UTR that affects the polyadenylation signal of the <jats:italic>fukutin<\/jats:italic> gene. This deletion would probably result in the complete loss of the <jats:italic>fukutin<\/jats:italic> transcripts from this allele. This is the first time a mutation localized outside of the <jats:italic>fukutin<\/jats:italic> coding region has been identified as a cause of WWS.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00936.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T10:24:17Z","timestamp":1232706257000},"page":"139-145","source":"Crossref","is-referenced-by-count":30,"title":["Two new patients bearing mutations in the <i>fukutin<\/i> gene confirm the relevance of this gene in Walker\u2013Warburg 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