{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T07:17:53Z","timestamp":1785827873440,"version":"3.56.0"},"reference-count":13,"publisher":"Cold Spring Harbor Laboratory","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>Two siblings, one male and one female, ages 6 and 13 yr old, have similar clinical features of global developmental delay, multiple congenital anomalies affecting the cardiac, genitourinary, and skeletal systems, and abnormal eye movements. Whole-genome sequencing revealed a homozygous splice variant (NM_014462.3:c.231+4A&gt;C) in <jats:italic>LSM1<\/jats:italic> that segregated with the phenotype in the family. LSM1 has a role in pre-mRNA splicing and degradation. Expression studies revealed absence of expression of the canonical isoform in the affected individuals. The <jats:italic>Lsm1<\/jats:italic> knockout mice have a partially overlapping phenotype that affects the brain, heart, and eye. To our knowledge, <jats:italic>LSM1<\/jats:italic> has not been associated with any human disorder; however, the tissue expression pattern, gene constraint, and the similarity of the phenotype in our patients and the knockout mice models suggest it has a role in the development of multiple organ systems in humans.<\/jats:p>","DOI":"10.1101\/mcs.a004101","type":"journal-article","created":{"date-parts":[[2019,4,22]],"date-time":"2019-04-22T20:55:12Z","timestamp":1555966512000},"page":"a004101","source":"Crossref","is-referenced-by-count":7,"title":["Homozygous noncanonical splice variant in <i>LSM1<\/i> in two siblings with multiple congenital anomalies and global developmental delay"],"prefix":"10.1101","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6461-0957","authenticated-orcid":false,"given":"Volkan","family":"Okur","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2073-5050","authenticated-orcid":false,"given":"Charles A.","family":"LeDuc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin","family":"Guzman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6843-3465","authenticated-orcid":false,"given":"Zaheer M.","family":"Valivullah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4977-9719","authenticated-orcid":false,"given":"Kwame","family":"Anyane-Yeboa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3438-5685","authenticated-orcid":false,"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2019,4,22]]},"reference":[{"key":"2021112506183782000_5.3.a004101.1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/18.20.5789"},{"key":"2021112506183782000_5.3.a004101.2","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"2021112506183782000_5.3.a004101.3","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215"},{"key":"2021112506183782000_5.3.a004101.4","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.j2249"},{"key":"2021112506183782000_5.3.a004101.5","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-017-00141-2"},{"key":"2021112506183782000_5.3.a004101.6","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.58"},{"key":"2021112506183782000_5.3.a004101.7","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12596"},{"key":"2021112506183782000_5.3.a004101.8","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"2021112506183782000_5.3.a004101.9","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-018-0384-2"},{"key":"2021112506183782000_5.3.a004101.10","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1622708"},{"key":"2021112506183782000_5.3.a004101.11","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2015.09.009"},{"key":"2021112506183782000_5.3.a004101.12","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.148"},{"key":"2021112506183782000_5.3.a004101.13","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22844"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a004101","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,25]],"date-time":"2021-11-25T14:18:49Z","timestamp":1637849929000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a004101"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4,22]]},"references-count":13,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2019,6,3]]},"published-print":{"date-parts":[[2019,6]]}},"alternative-id":["10.1101\/mcs.a004101"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a004101","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"value":"2373-2865","type":"print"},{"value":"2373-2873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,4,22]]}}}