2024-03-29T15:00:53Zhttp://digital.csic.es/dspace-oai/requestoai:digital.csic.es:10261/819512017-12-18T13:09:28Zcom_10261_22com_10261_1col_10261_275
00925njm 22002777a 4500
dc
Cotarelo, R. P.
author
Martínez-Frías, María Luisa
author
Cruces, Jesús
author
2008
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.
Clinical Genetics 73(2): 139-145 (2008)
http://hdl.handle.net/10261/81951
10.1111/j.1399-0004.2007.00936.x
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome