{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T09:14:29Z","timestamp":1789636469939,"version":"4.0.0"},"reference-count":13,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T00:00:00Z","timestamp":1769731200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Reports"],"abstract":"<jats:p>Background and Clinical Significance: MSMO1, encoding a key enzyme in the cholesterol synthesis pathway, is associated with an autosomal recessive condition characterized by microcephaly, ocular abnormalities, growth delay, psoriasiform dermatitis, immune dysfunction, and intellectual disability. Case Presentation: This report describes a patient presenting with global developmental delay and bilateral infantile cataracts found to harbor a homozygous likely pathogenic MSMO1 variant and reviews the literature on MSMO1 deficiency and its association with infantile cataracts. Conclusions: The mechanism of early lens opacification is thought to result from impaired cholesterol synthesis, altering the lipid composition of the lens membrane and leading to early cataract formation. This case expands our understanding of MSMO1 deficiency and highlights the critical role of cholesterol biosynthesis in early lens development.<\/jats:p>","DOI":"10.3390\/reports9010045","type":"journal-article","created":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T08:19:38Z","timestamp":1769761178000},"page":"45","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Infantile Cataracts Associated with a Homozygous Missense MSMO1 Variant\u2014Case Report and Literature Review"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-3521-8415","authenticated-orcid":false,"given":"Nick","family":"Hassas","sequence":"first","affiliation":[{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1822-1728","authenticated-orcid":false,"given":"Andy","family":"Drackley","sequence":"additional","affiliation":[{"name":"Edwards Family Division of Genetics & Rare Diseases, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"},{"name":"Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-0496-9971","authenticated-orcid":false,"given":"Jelena","family":"Ivanisevic","sequence":"additional","affiliation":[{"name":"Edwards Family Division of Genetics & Rare Diseases, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"},{"name":"Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1907-7625","authenticated-orcid":false,"given":"Hantamalala","family":"Ralay Ranaivo","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6506-1096","authenticated-orcid":false,"given":"Sudhi P.","family":"Kurup","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"},{"name":"Department of Ophthalmology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.exer.2016.06.011","article-title":"Mutations and mechanisms in congenital and age-related cataracts","volume":"156","author":"Shiels","year":"2017","journal-title":"Exp. Eye Res."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1007\/s12013-017-0812-7","article-title":"Cholesterol Bilayer Domains in the Eye Lens Health: A review","volume":"75","author":"Widomska","year":"2017","journal-title":"Cell Biochem. 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Lipids"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"eadg7492","DOI":"10.1126\/science.adg7492","article-title":"Accurate proteome-wide missense variant effect prediction with AlphaMissense","volume":"381","author":"Cheng","year":"2023","journal-title":"Science"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1159\/000511126","article-title":"New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis","volume":"160","author":"Yildizhan","year":"2020","journal-title":"Cytogenet. 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