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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome
Human Genetics, Volume 121, No. 6, Year 2007
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Description
Intragenic homozygous deletions in the Large gene are associated with a severe neuromuscular phenotype in the myodystrophy (myd) mouse. These mutations result in a virtual lack of glycosylation of αdystroglycan. Compound heterozygous LARGE mutations have been reported in a single human patient, manifesting with mild congenital muscular dystrophy (CMD) and severe mental retardation. These mutations are likely to retain some residual LARGE glycosyltransferase activity as indicated by residual α-dystroglycan glycosylation in patient cells. We hypothesized that more severe LARGE mutations are associated with a more severe CMD phenotype in humans. Here we report a 63-kb intragenic LARGE deletion in a family with Walker-Warburg syndrome (WWS), which is characterized by CMD, and severe structural brain and eye malformations. This finding demonstrates that LARGE gene mutations can give rise to a wide clinical spectrum, similar as for other genes that have a role in the post-translational modification of the α-dystroglycan protein. © Springer-Verlag 2007.
Authors & Co-Authors
van Reeuwijk, Jeroen V.
Unknown Affiliation
Grewal, Prabhjit K.
Unknown Affiliation
Salih, Mustafa Abdalla M.
Unknown Affiliation
Beltrán-Valero de Bernabé, Daniel
Unknown Affiliation
McLaughlan, Jenny M.
Unknown Affiliation
Michielse, Caroline B.
Unknown Affiliation
Herrmann, Ralf
Unknown Affiliation
Hewitt, Jane E.
Unknown Affiliation
Steinbrecher, Alice
Unknown Affiliation
Seidahmed, Mohammed Zain
Unknown Affiliation
Shaheed, Meeralebbae M.
Unknown Affiliation
Abomelha, A.
Unknown Affiliation
Brunner, Han G.
Unknown Affiliation
van Bokhoven, Hans
Unknown Affiliation
Voit, Thomas
Unknown Affiliation
Statistics
Citations: 140
Authors: 15
Affiliations: 10
Identifiers
Doi:
10.1007/s00439-007-0362-y
ISSN:
03406717
Research Areas
Disability
Genetics And Genomics
Health System And Policy