{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(2)"],"submitter":["Mahjoub G"],"pubmed_abstract":["Dystroglycan (DG) is a major cell membrane glycoprotein, which is encoded by the DAG1 gene. α-DG is one of DG subunits, belongs to O-mannosylated protein of mammals and was identified in brain, peripheral nerves and muscle. Dystroglycanopathies are a group of heterogeneous congenital muscular dystrophies, which can result from defective α-DG mannosylation. First line of α-DG glycosylation is catalyzed by protein O-mannosyltransferase family (PMT). In this study, the mutation was identified in the POMT2 gene, which encodes O-mannosyltransferase 2 protein and its mutations can be contributed to dystroglycanopathies. A very rare missense mutation in the POMT2 gene (NM_013382: exon9: c. 1106G>A) was identified by next generation sequencing (NGS) and was subsequently confirmed using Sanger sequ"],"journal":["Intractable & rare diseases research"],"pagination":["104-108"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7263986"],"repository":["biostudies-literature"],"pubmed_title":["Reporting one very rare pathogenic variation c.1106G>A in POMT2 gene."],"pmcid":["PMC7263986"],"pubmed_authors":["Faghihi MA","Mahjoub G","Taghdiri M"],"additional_accession":[]},"is_claimable":false,"name":"Reporting one very rare pathogenic variation c.1106G>A in POMT2 gene.","description":"Dystroglycan (DG) is a major cell membrane glycoprotein, which is encoded by the DAG1 gene. α-DG is one of DG subunits, belongs to O-mannosylated protein of mammals and was identified in brain, peripheral nerves and muscle. Dystroglycanopathies are a group of heterogeneous congenital muscular dystrophies, which can result from defective α-DG mannosylation. First line of α-DG glycosylation is catalyzed by protein O-mannosyltransferase family (PMT). In this study, the mutation was identified in the POMT2 gene, which encodes O-mannosyltransferase 2 protein and its mutations can be contributed to dystroglycanopathies. A very rare missense mutation in the POMT2 gene (NM_013382: exon9: c. 1106G>A) was identified by next generation sequencing (NGS) and was subsequently confirmed using Sanger sequ","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 May","modification":"2025-04-05T15:25:59.433Z","creation":"2020-06-07T07:18:37Z"},"accession":"S-EPMC7263986","cross_references":{"pubmed":["32494558"],"doi":["10.5582/irdr.2020.03013"]}}