{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T22:08:19Z","timestamp":1779919699982,"version":"3.53.1"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T00:00:00Z","timestamp":1699920000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Peroxisome biogenesis disorders (PBDs) are caused by variants in PEX genes that impair peroxisome function. Zellweger spectrum disorders (ZSDs) are the most severe and common subtype of PBDs, affecting multiple organ systems due to peroxisomal involvement in various metabolic functions. <jats:italic>PEX13<\/jats:italic> gene variants are rare causes of ZSDs, with only 21 cases reported worldwide and none in China.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe an infant with biochemically and molecularly confirmed ZSDs due to variants in the <jats:italic>PEX13<\/jats:italic> gene, identified by whole exome sequencing and validated by Sanger sequencing. The patient's treatment and prognosis were followed up. We also reviewed the literature on previously reported cases with <jats:italic>PEX13<\/jats:italic> variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient had severe hypotonia, seizures, hepatic dysfunction, failure to thrive, and dysmorphic features. Serum analysis revealed elevated levels of very long\u2010chain fatty acids (VLCFA), phytanic acid, and pipecolic acid. We detected a novel homozygous missense variant c.493G&gt;C (p. Ala165Pro) in the <jats:italic>PEX13<\/jats:italic> gene (NM_002618.3), which caused severe clinical manifestations and was inherited from the consanguineous parents. The patient died at the age of 14\u2009months.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report the first case of ZSDs due to the <jats:italic>PEX13<\/jats:italic> variant in China. Our findings broaden the mutational spectrum of the <jats:italic>PEX13<\/jats:italic> gene and indicate that missense variants can lead to severe ZSDs phenotypes, which has implications for genotype\u2013phenotype correlations and genetic counseling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2315","type":"journal-article","created":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T11:58:41Z","timestamp":1699963121000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Severe Zellweger spectrum disorder due to a novel missense variant in the <i>PEX13<\/i> gene: A case report and the literature review"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3880-7064","authenticated-orcid":false,"given":"Ling","family":"Su","sequence":"first","affiliation":[{"name":"Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-4648-106X","authenticated-orcid":false,"given":"Min\u2010Zhi","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0975-0054","authenticated-orcid":false,"given":"Xiao\u2010Dan","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-2296-7273","authenticated-orcid":false,"given":"Shuang","family":"Wu","sequence":"additional","affiliation":[{"name":"School of Pediatrics Guangzhou Medical University  Guangzhou P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6144-1676","authenticated-orcid":false,"given":"Li","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou P. R. 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