{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T12:21:23Z","timestamp":1790511683077,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,1,13]],"date-time":"2016-01-13T00:00:00Z","timestamp":1452643200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"crossref","award":["APP104668"],"award-info":[{"award-number":["APP104668"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"crossref","award":["APP1007705"],"award-info":[{"award-number":["APP1007705"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Austrian Science Fund","award":["P27634-B19"],"award-info":[{"award-number":["P27634-B19"]}]},{"DOI":"10.13039\/100000065","name":"NIH National Institute of Neurological Disorders and Stroke","doi-asserted-by":"crossref","award":["K08NS075094"],"award-info":[{"award-number":["K08NS075094"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100009340","name":"Children's Discovery Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100009340","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Kingdom of Saudi Arabia"},{"name":"Family Trust of Lord Selborne"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To use linkage analysis and whole exome sequencing to identify the genetic mutation in a multigenerational Australian family with Charcot\u2013Marie\u2013Tooth disease type 2 (CMT2) and pyramidal signs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Genome\u2010wide linkage analysis was performed to map the locus. Whole exome sequencing was undertaken on selected individuals (3 affected, 1 normal), and segregation analysis and mutation screening were carried out using high\u2010resolution melt analysis. The GEM.app database was queried to identify additional families with mutations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Significant linkage (2\u2010point LOD score\u2009\u2265\u2009+3) and haplotype analysis mapped a new locus for CMT2 and pyramidal signs to a 6.6Mb interval on chromosome 22q12.1\u2013q12.3. Whole exome sequencing identified a novel mutation (p.R252W) in the microrchidia CW\u2010type zinc finger 2 (\n                      <jats:italic>MORC2<\/jats:italic>\n                      ) gene mapping within the linkage region. The mutation fully segregated with the disease phenotype in the family. Screening additional families and querying unsolved CMT2 exomes, we identified the p.R252W mutation in 2 unrelated early onset CMT2 families and a second mutation p.E236G in 2 unrelated CMT2 families. Both the mutations occurred at highly conserved amino acid residues and were absent in the normal population.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      We have identified a new locus in which\n                      <jats:italic>MORC2<\/jats:italic>\n                      mutations are the likely pathogenic cause of CMT2 and pyramidal signs in these families.\n                      <jats:italic>MORC2<\/jats:italic>\n                      encodes the human CW\u2010type zinc finger 2 protein, which is a chromatin modifier involved in the regulation of DNA repair as well as gene transcription. ANN NEUROL 2016;79:419\u2013427\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ana.24575","type":"journal-article","created":{"date-parts":[[2015,12,10]],"date-time":"2015-12-10T11:07:13Z","timestamp":1449745633000},"page":"419-427","source":"Crossref","is-referenced-by-count":52,"title":["<scp>\n                      <i>MORC<\/i>\n                    <\/scp>\n                    <i>2<\/i>\n                    mutations cause axonal\n                    <scp>C<\/scp>\n                    harcot\u2013\n                    <scp>M<\/scp>\n                    arie\u2013\n                    <scp>T<\/scp>\n                    ooth disease with pyramidal signs"],"prefix":"10.1002","volume":"79","author":[{"given":"Obaid M.","family":"Albulym","sequence":"first","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute Concord NSW Australia"},{"name":"Sydney Medical School University of Sydney Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina L.","family":"Kennerson","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute Concord NSW Australia"},{"name":"Sydney Medical School University of Sydney Sydney NSW Australia"},{"name":"Molecular Medicine Laboratory, Concord Hospital Concord NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew B.","family":"Harms","sequence":"additional","affiliation":[{"name":"Department of Neurology Washington University School of Medicine St Louis MO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander P.","family":"Drew","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute Concord NSW Australia"},{"name":"Sydney Medical School University of Sydney Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna H.","family":"Siddell","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute Concord NSW Australia"},{"name":"Sydney Medical School University of Sydney Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Auer\u2010Grumbach","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Medical University of Vienna Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Pestronk","sequence":"additional","affiliation":[{"name":"Department of Neurology Washington University School of Medicine St Louis MO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Connolly","sequence":"additional","affiliation":[{"name":"Department of Neurology Washington University School of Medicine St Louis MO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert H.","family":"Baloh","sequence":"additional","affiliation":[{"name":"Department of Neurology Cedars Sinai Medical Center Los Angeles CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[{"name":"Dr John T. MacDonald Department of Human Genetics and John P. 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