{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:22:43Z","timestamp":1747146163016,"version":"3.40.5"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,11,26]],"date-time":"2021-11-26T00:00:00Z","timestamp":1637884800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Monoallelic pathogenic variants in <jats:italic>BICD2<\/jats:italic> are associated with autosomal dominant Spinal Muscular Atrophy Lower Extremity Predominant 2A and 2B (SMALED2A, SMALED2B). As part of the cellular vesicular transport, complex BICD2 facilitates the flow of constitutive secretory cargoes from the trans\u2010Golgi network, and its dysfunction results in motor neuron loss. The reported phenotypes among patients with SMALED2A and SMALED2B range from a congenital onset disorder of respiratory insufficiency, arthrogryposis, and proximal or distal limb weakness to an adult\u2010onset disorder of limb weakness and contractures. We report an infant with congenital respiratory insufficiency requiring mechanical ventilation, congenital diaphragmatic paralysis, decreased lung volume, and single finger camptodactyly. The infant displayed appropriate antigravity limb movements but had radiological, electrophysiological, and histopathological evidence of myopathy. Exome sequencing and long\u2010read whole\u2010genome sequencing detected a novel de novo <jats:italic>BICD2<\/jats:italic> variant (NM_001003800.1:c.[1543G&gt;A];[=]). This is predicted to encode p.(Glu515Lys); p.Glu515 is located in the coiled\u2010coil 2 mutation hotspot. We hypothesize that this novel phenotype of diaphragmatic paralysis without clear appendicular muscle weakness and contractures of large joints is a presentation of <jats:italic>BICD2<\/jats:italic>\u2010related disease.<\/jats:p>","DOI":"10.1002\/ajmg.a.62578","type":"journal-article","created":{"date-parts":[[2021,11,26]],"date-time":"2021-11-26T11:54:10Z","timestamp":1637927650000},"page":"926-930","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel <scp><i>BICD2<\/i><\/scp> phenotype?"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7431-6794","authenticated-orcid":false,"given":"Hui\u2010Lin","family":"Chin","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia  Vancouver British Columbia Canada"},{"name":"Khoo Teck Puat\u2010National University Children's Medical Institute National University Hospital  Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Huynh","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jahanshah","family":"Ashkani","sequence":"additional","affiliation":[{"name":"Canada's Michael Smith Genome Sciences Centre, BC Cancer  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Castaldo","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Department of Pediatrics University of British Columbia and Women's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine","family":"Dixon","sequence":"additional","affiliation":[{"name":"Canada's Michael Smith Genome Sciences Centre, BC Cancer  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn","family":"Selby","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics University of British Columbia and Children's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaoqing","family":"Shen","sequence":"additional","affiliation":[{"name":"Canada's Michael Smith Genome Sciences Centre, BC Cancer  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Wright","sequence":"additional","affiliation":[{"name":"Division of Respirology, Department of Pediatrics University of British Columbia and Children's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3097-241X","authenticated-orcid":false,"given":"Cornelius F.","family":"Boerkoel","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Glenda","family":"Hendson","sequence":"additional","affiliation":[{"name":"Department of Pathology, BC Children's Hospital BC Women's Hospital and Health Centre  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven J. M.","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia  Vancouver British Columbia Canada"},{"name":"Canada's Michael Smith Genome Sciences Centre, BC Cancer  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,11,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.04.010"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.1950180311"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/18.4.617"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.00482"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14173"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2007.06.010"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsb.2006.03.009"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-74354-9"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25704"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.47246"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/febs.12274"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-020-00909-6"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41587-020-0503-6"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1000350"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaa4080"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62578","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62578","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62578","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T00:04:01Z","timestamp":1692576241000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62578"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,26]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1002\/ajmg.a.62578"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62578","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2021,11,26]]},"assertion":[{"value":"2021-04-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}