Abstract:
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.
journal_name
Neurologyjournal_title
Neurologyauthors
Dong M,Noguchi S,Endo Y,Hayashi YK,Yoshida S,Nonaka I,Nishino Idoi
10.1212/WNL.0000000000001162subject
Has Abstractpub_date
2015-01-20 00:00:00pages
273-9issue
3eissn
0028-3878issn
1526-632Xpii
WNL.0000000000001162journal_volume
84pub_type
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