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http://purl.uniprot.org/citations/25503980http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/25503980http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/25503980http://www.w3.org/2000/01/rdf-schema#comment"

Objectives

To identify gene mutations in patients with dystroglycanopathy and prove pathogenicity of those mutations using an in vitro cell assay.

Methods

We performed whole-exome sequencing on 20 patients, who were previously diagnosed with dystroglycanopathy by immunohistochemistry and/or Western blot analysis. We also evaluated pathogenicity of identified mutations for phenotypic recovery in a DAG1-knockout haploid human cell line transfected with mutated DAG1 complementary DNA.

Results

Using exome sequencing, we identified compound heterozygous missense mutations in DAG1 in a patient with asymptomatic hyperCKemia and pathologically mild muscular dystrophy. Both mutations were in the N-terminal region of α-dystroglycan and affected its glycosylation. Mutated DAG1 complementary DNAs failed to rescue the phenotype in DAG1-knockout cells, suggesting that these are pathogenic mutations.

Conclusion

Novel mutations in DAG1 are associated with asymptomatic hyperCKemia with hypoglycosylation of α-dystroglycan. The combination of exome sequencing and a phenotype-rescue experiment on a gene-knockout haploid cell line represents a powerful tool for evaluation of these pathogenic mutations."xsd:string
http://purl.uniprot.org/citations/25503980http://purl.org/dc/terms/identifier"doi:10.1212/wnl.0000000000001162"xsd:string
http://purl.uniprot.org/citations/25503980http://purl.org/dc/terms/identifier"doi:10.1212/wnl.0000000000001162"xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/author"Dong M."xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/author"Dong M."xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/author"Endo Y."xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/author"Endo Y."xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/author"Noguchi S."xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/author"Noguchi S."xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/author"Yoshida S."xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/author"Yoshida S."xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/author"Hayashi Y.K."xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/author"Hayashi Y.K."xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/author"Nishino I."xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/author"Nishino I."xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/author"Nonaka I."xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/author"Nonaka I."xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/name"Neurology"xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/name"Neurology"xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/pages"273-279"xsd:string
http://purl.uniprot.org/citations/25503980http://purl.uniprot.org/core/pages"273-279"xsd:string
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