{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:56Z","timestamp":1753861796765,"version":"3.41.2"},"reference-count":3,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T00:00:00Z","timestamp":1743552000000},"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":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Dysostosis multiplex is a skeletal dysplasia often associated with lysosomal storage disorders (LSDs) such as mucopolysaccharidoses (MPS) and mucolipidoses (ML). Recently, pathogenic variants in the <jats:italic>LYSET<\/jats:italic> gene have been linked to a novel disorder resembling mucolipidosis types II\/III (MLII\/III). We report two Iranian brothers with homozygous pathogenic variants in <jats:italic>LYSET<\/jats:italic> (c.197dupA) who exhibit clinical, enzymatic, and radiographic features strikingly similar to MLII. Our findings reinforce the similarity between <jats:italic>LYSET<\/jats:italic>\u2010related phenotypes and MLII, aligning with previously described cases. We propose the term \u201c<jats:italic>LYSET<\/jats:italic>\u2010related mucolipidosis\u201d to describe this disorder and emphasize the importance of including <jats:italic>LYSET<\/jats:italic> in the genetic diagnostic panel for MLII\/III\u2010like presentations.<\/jats:p>","DOI":"10.1002\/ajmg.a.64063","type":"journal-article","created":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T10:18:16Z","timestamp":1743589096000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Biallelic Variant in <i>LYSET<\/i> Associated With Mucolipidosis <scp>II<\/scp>\u2010Like Phenotype"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8467-4728","authenticated-orcid":false,"given":"Ariana","family":"Kariminejad","sequence":"first","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farzaneh","family":"Pouya","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatemeh","family":"Ahangari","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saeed","family":"Talebi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Biology, Faculty of Medicine Iran University of Medical Sciences (IUMS)  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fariba","family":"Afroozan","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frans W.","family":"Verheijen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Center  Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6084-7778","authenticated-orcid":false,"given":"Hossein","family":"Najmabadi","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"},{"name":"Genetics Research Center University of Social Welfare &amp; Rehabilitation Science  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edwin H.","family":"Jacobs","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Center  Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24139"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.abn5648"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-022-33025-1"}],"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.64063","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T06:48:38Z","timestamp":1751525318000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64063"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,2]]},"references-count":3,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1002\/ajmg.a.64063"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64063","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2025,4,2]]},"assertion":[{"value":"2024-10-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-11","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e64063"}}