{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:27:07Z","timestamp":1791977227810,"version":"4.4.0"},"reference-count":46,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,3,16]],"date-time":"2020-03-16T00:00:00Z","timestamp":1584316800000},"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":["Annals of Neurology"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:p>The bicaudal D cargo adaptor 2 (<jats:italic>BICD2<\/jats:italic>) gene encodes a conserved cargo adaptor protein required for dynein\u2010mediated transport. Inherited and de novo variants in <jats:italic>BICD2<\/jats:italic> cause SMALED2 (spinal muscular atrophy lower extremity dominant 2), and a subset have recently been reported to cause severe, often lethal disease. However, a true genotype\u2013phenotype correlation for <jats:italic>BICD2<\/jats:italic> has not been performed, and cases described to date are scattered among at least 14 publications. In this review, we identify the characteristics of disease\u2010causing variants in <jats:italic>BICD2<\/jats:italic> that distinguish them from benign variation and perform genotype\u2013phenotype correlations for 99 <jats:italic>BICD2<\/jats:italic> variant carriers from 35 families. <jats:bold>ANN NEUROL 2020;87:487\u2013496<\/jats:bold><\/jats:p>","DOI":"10.1002\/ana.25704","type":"journal-article","created":{"date-parts":[[2020,2,14]],"date-time":"2020-02-14T13:21:05Z","timestamp":1581686465000},"page":"487-496","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["The Genotypic and Phenotypic Spectrum of <i>BICD2<\/i> Variants in Spinal Muscular Atrophy"],"prefix":"10.1002","volume":"87","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3204-3067","authenticated-orcid":false,"given":"Daniel C.","family":"Koboldt","sequence":"first","affiliation":[{"name":"Institute for Genomic Medicine Nationwide Children's Hospital  Columbus OH"},{"name":"Department of Pediatrics Ohio State University  Columbus OH"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9621-8319","authenticated-orcid":false,"given":"Megan A.","family":"Waldrop","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ohio State University  Columbus OH"},{"name":"Center for Gene Therapy Nationwide Children's Hospital  Columbus OH"},{"name":"Department of Neurology Ohio State University  Columbus OH"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard K.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Institute for Genomic Medicine Nationwide Children's Hospital  Columbus OH"},{"name":"Department of Pediatrics Ohio State University  Columbus OH"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin M.","family":"Flanigan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ohio State University  Columbus OH"},{"name":"Center for Gene Therapy Nationwide Children's Hospital  Columbus OH"},{"name":"Department of Neurology Ohio State University  Columbus OH"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,3,16]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01668496"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1971.00490030102013"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(78)90072-2"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182556c05"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-012-0337-6"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.011"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.013"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.018"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-306777"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu356"},{"key":"e_1_2_8_14_1","doi-asserted-by":"crossref","unstructured":"BansagiB GriffinH RameshV et al. The p.Ser107Leu in BICD2 is a mutation \u2018hot spot\u2019 causing distal spinal muscular atrophy. Brain 2015;138(pt 11):e391.","DOI":"10.1093\/brain\/awv159"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.126"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12914"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.09.009"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25114"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003360"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.98"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38577"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2018.01.013"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a003160"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880170210"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2015.00401"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy086"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23313"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/112.4.803"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/414611a"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.aanat.2005.07.004"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/15680"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1080\/15476286.2016.1251542"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.11.4.423"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4971"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2016.01.001"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/20.15.4041"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaa4080"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E12-03-0210"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb891"},{"key":"e_1_2_8_40_1","doi-asserted-by":"crossref","unstructured":"MatsutoM KanoF MurataM. Reconstitution of the targeting of Rab6A to the Golgi apparatus in semi\u2010intact HeLa cells: a role of BICD2 in stabilizing Rab6A on Golgi membranes and a concerted role of Rab6A\/BICD2 interactions in Golgi\u2010to\u2010ER retrograde transport. Biochim Biophys Acta 2015;1853(pt A):2592\u20132609.","DOI":"10.1016\/j.bbamcr.2015.05.005"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2007.06.010"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1000350"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.141.1.51"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1086\/344210"},{"key":"e_1_2_8_45_1","doi-asserted-by":"crossref","unstructured":"TheunissenTEJ SalleveltS HellebrekersD et al. Rapid resolution of blended or composite multigenic disease in infants by whole\u2010exome sequencing. J Pediatr 2017;182:371\u2013374.e2.","DOI":"10.1016\/j.jpeds.2016.12.032"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2017.12.023"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2017.12.001"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.25704","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.25704","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ana.25704","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.25704","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T06:51:54Z","timestamp":1693551114000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.25704"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,16]]},"references-count":46,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["10.1002\/ana.25704"],"URL":"https:\/\/doi.org\/10.1002\/ana.25704","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,16]]},"assertion":[{"value":"2019-09-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}