{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Cutrupi AN"],"funding":["National Health and Medical Research Council"],"pagination":["422-433"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6014456"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["6(3)"],"pubmed_abstract":["Inherited peripheral neuropathies (IPNs) are a clinically and genetically heterogeneous group of diseases affecting the motor and sensory peripheral nerves. IPNs have benefited from gene discovery and genetic diagnosis using next-generation sequencing with over 80 causative genes available for testing. Despite this success, up to 50% of cases remain genetically unsolved. In the absence of protein coding mutations, noncoding DNA or structural variation (SV) mutations are a possible explanation. The most common IPN, Charcot-Marie-Tooth neuropathy type 1A (CMT1A), is caused by a 1.5 Mb duplication causing trisomy of the dosage sensitive gene PMP22. Using genome sequencing, we recently identified two large genomic rearrangements causing IPN subtypes X-linked CMT (CMTX3) and distal hereditary m"],"journal":["Molecular genetics & genomic medicine"],"pubmed_title":["Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation."],"pmcid":["PMC6014456"],"funding_grant_id":["APP1046680"],"pubmed_authors":["Cutrupi AN","Kennerson ML","Nicholson GA","Brewer MH"],"additional_accession":[]},"is_claimable":false,"name":"Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.","description":"Inherited peripheral neuropathies (IPNs) are a clinically and genetically heterogeneous group of diseases affecting the motor and sensory peripheral nerves. IPNs have benefited from gene discovery and genetic diagnosis using next-generation sequencing with over 80 causative genes available for testing. Despite this success, up to 50% of cases remain genetically unsolved. In the absence of protein coding mutations, noncoding DNA or structural variation (SV) mutations are a possible explanation. The most common IPN, Charcot-Marie-Tooth neuropathy type 1A (CMT1A), is caused by a 1.5 Mb duplication causing trisomy of the dosage sensitive gene PMP22. Using genome sequencing, we recently identified two large genomic rearrangements causing IPN subtypes X-linked CMT (CMTX3) and distal hereditary m","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 May","modification":"2025-04-19T20:21:00.258Z","creation":"2019-03-26T23:44:39Z"},"accession":"S-EPMC6014456","cross_references":{"pubmed":["29573232"],"doi":["10.1002/mgg3.390"]}}