{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T19:21:45Z","timestamp":1762543305427,"version":"build-2065373602"},"reference-count":12,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2020,10,14]],"date-time":"2020-10-14T00:00:00Z","timestamp":1602633600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>(1) Background: Molybdenum cofactor deficiency type B (MOCODB, #252160) is a rare autosomal recessive metabolic disorder characterized by intractable seizures of neonatal-onset, muscular spasticity, accompanying with hypouricemia, elevated urinary sulfite levels and craniofacial dysmorphism. Thirty-five patients were reported to date. (2) Methods: Our paper aimed to delineate the disease genotype by presenting another patient, in whom a novel, in-frame variant within the MOCS2 gene was identified. (3) Results: Exome sequencing led to the identification of a novel variant in the MOCS2 gene-c.472_477del of unknown significance (VUS). (4) Conclusions: To prove the clinical significance of the mentioned variant, analysis of the possible mutation consequences on molecular level with the use of the available crystal structure of the human molybdopterin synthase complex was of great importance. Moreover, a potential pathomechanism resulting from a molecular defect was presented, giving original insight into the current knowledge on this rare disease, including treatment options.<\/jats:p>","DOI":"10.3390\/diagnostics10100821","type":"journal-article","created":{"date-parts":[[2020,10,14]],"date-time":"2020-10-14T08:59:22Z","timestamp":1602665962000},"page":"821","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9814-0324","authenticated-orcid":false,"given":"Aleksandra","family":"Jezela-Stanek","sequence":"first","affiliation":[{"name":"Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Witold","family":"Blaz","sequence":"additional","affiliation":[{"name":"Clinical Department of Neonatology and NICU, Saint Jadwiga the Queen Clinical Provincial Hospital No2, 35-301 Rzeszow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2530-6957","authenticated-orcid":false,"given":"Artur","family":"Gora","sequence":"additional","affiliation":[{"name":"Tunneling Group, Biotechnology Centre, Silesian University of Technology, 44-100 Gliwice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malgorzata","family":"Bochenska","sequence":"additional","affiliation":[{"name":"Clinical Department of Pediatric Neurology, Saint Jadwiga the Queen Clinical Provincial Hospital No2, 35-301 Rzeszow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"Kusmierska","sequence":"additional","affiliation":[{"name":"Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0762-3721","authenticated-orcid":false,"given":"Jolanta","family":"Sykut-Cegielska","sequence":"additional","affiliation":[{"name":"Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,10,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"3715","DOI":"10.1073\/pnas.77.6.3715","article-title":"Inborn errors of molybdenum metabolism: Combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor","volume":"77","author":"Johnson","year":"1980","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.pediatrneurol.2019.04.021","article-title":"The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations","volume":"99","author":"Arican","year":"2019","journal-title":"Pediatr. Neurol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e657","DOI":"10.1002\/mgg3.657","article-title":"Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature","volume":"7","author":"Scelsa","year":"2019","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1086\/302296","article-title":"Human molybdopterin synthase gene: Genomic structure and mutations in molybdenum cofactor deficiency type B","volume":"64","author":"Reiss","year":"1999","journal-title":"Am. J. Hum. 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PLoS ONE, 13.","key":"ref_12","DOI":"10.1371\/journal.pone.0198990"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/10\/10\/821\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T10:21:04Z","timestamp":1760178064000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/10\/10\/821"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,14]]},"references-count":12,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2020,10]]}},"alternative-id":["diagnostics10100821"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics10100821","relation":{},"ISSN":["2075-4418"],"issn-type":[{"type":"electronic","value":"2075-4418"}],"subject":[],"published":{"date-parts":[[2020,10,14]]}}}