{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T08:52:47Z","timestamp":1787734367521,"version":"build-2784847793"},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T00:00:00Z","timestamp":1689033600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100013465","name":"French Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["R16070LL"],"award-info":[{"award-number":["R16070LL"]}],"id":[{"id":"10.13039\/100013465","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001677","name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through whole\u2010exome sequencing combined with arrayCGH from DNA of a fetus presenting with early onset AMC, we identified biallelic loss of function variants in Dystonin (\n                    <jats:italic>DST)<\/jats:italic>\n                    : a stop gain variant (NM_001144769.5:c.12208G\u2009&gt;\u2009T:p.(Glu4070Ter)) on the neuronal isoform and a 175\u2009kb microdeletion including exons 25\u201396 of this isoform on the other allele [NC_000006.11:g.(56212278_56323554)_(56499398_56507586)del]. Transmission electron microscopy of the sciatic nerve revealed abnormal morphology of the peripheral nerve with severe hypomyelination associated with dramatic reduction of fiber density which highlights the critical role of\n                    <jats:italic>DST<\/jats:italic>\n                    in peripheral nerve axonogenesis during development in human. Variants in the neuronal isoforms of\n                    <jats:italic>DST<\/jats:italic>\n                    cause hereditary sensory and autonomic neuropathy which has been reported in several unrelated families with highly variable age of onset from fetal to adult onset. Our data enlarge the disease mechanisms of neurogenic AMC.\n                  <\/jats:p>","DOI":"10.1111\/cge.14397","type":"journal-article","created":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T04:25:13Z","timestamp":1689049513000},"page":"587-592","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["<scp>\n                      <i>DST<\/i>\n                    <\/scp>\n                    variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type\n                    <scp>VI<\/scp>\n                    hereditary sensory autonomic neuropathy"],"prefix":"10.1111","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6269-5966","authenticated-orcid":false,"given":"Yline","family":"Capri","sequence":"first","affiliation":[{"name":"Clinical Genetics Unit, AP\u2010HP Nord H\u00f4pital Robert Debr\u00e9  Paris France"},{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), UMR\u20101195, Universit\u00e9 Paris Saclay  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas","family":"Bourmance","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), UMR\u20101195, Universit\u00e9 Paris Saclay  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Dupont","sequence":"additional","affiliation":[{"name":"Cytogenetics Unit, AP\u2010HP Nord H\u00f4pital Robert Debr\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010H\u00e9l\u00e8ne","family":"Saint\u2010Frison","sequence":"additional","affiliation":[{"name":"Foetopathology Unit, AP\u2010HP Nord H\u00f4pital Robert Debr\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabien","family":"Guimiot","sequence":"additional","affiliation":[{"name":"Foetopathology Unit, AP\u2010HP Nord H\u00f4pital Robert Debr\u00e9  Paris France"},{"name":"INSERM UMR\u20101141, Universit\u00e9 Paris Nord, H\u00f4pital Robert Debr\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Grotto","sequence":"additional","affiliation":[{"name":"Maternit\u00e9 Port\u2010Royal, AP\u2010HP Centre Universit\u00e9 Paris Cit\u00e9, H\u00f4pital Cochin  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvon","family":"Chitrit","sequence":"additional","affiliation":[{"name":"Obstetric Department, AP\u2010HP Nord H\u00f4pital Robert Debr\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Laquerri\u00e8re","sequence":"additional","affiliation":[{"name":"Department of Pathology Normandie Universit\u00e9, INSERM U1245, Rouen University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9125-3171","authenticated-orcid":false,"given":"Judith","family":"Melki","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), UMR\u20101195, Universit\u00e9 Paris Saclay  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,7,11]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20738"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-107595"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-107166"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt958"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201112034"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.19"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38367"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23524"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62609"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.14562"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003992"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23678"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000496"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.14477"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2618"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00492"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.379"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.14099"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13294"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2017.04.041"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.2003.01861.x"}],"container-title":["Clinical 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