title: Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.
abstract: Walker-Warburg 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-consanguineous parents, and in both cases, we identified mutations in the fukutin gene responsible for this syndrome. One of the patients carries a homozygous-single 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'UTR that affects the polyadenylation signal of the fukutin gene. This deletion would probably result in the complete loss of the fukutin transcripts from this allele. This is the first time a mutation localized outside of the fukutin coding region has been identified as a cause of WWS.
authors.affiliation: Departamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols" CSIC-UAM, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain.
authors.forename: R P
authors.initials: RP
authors.lastname: Cotarelo
authors.forename: M C
authors.initials: MC
authors.lastname: Valero
authors.forename: B
authors.initials: B
authors.lastname: Prados
authors.forename: A
authors.initials: A
authors.lastname: Peña
authors.forename: L
authors.initials: L
authors.lastname: Rodríguez
authors.forename: O
authors.initials: O
authors.lastname: Fano
authors.forename: J J
authors.initials: JJ
authors.lastname: Marco
authors.forename: M L
authors.initials: ML
authors.lastname: Martínez-Frías
authors.forename: J
authors.initials: J
authors.lastname: Cruces
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D000595:Amino Acid Sequence; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D017354:Point Mutation; D013577:Syndrome
chemical_list: D020413:3' Untranslated Regions; C113587:FKTN protein, human; D008565:Membrane Proteins