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Exome sequencing and Sanger sequencing were used to identify the genetic defect for PBDs in a two-generation non-consanguineous Han-Chinese pedigree. Compound heterozygous variants, a novel splicing variant c.113-2A&gt;G and a reported substitution c.890T&gt;C (p.Leu297Pro), in the peroxisomal biogenesis factor 10 gene (<jats:italic>PEX10<\/jats:italic>) were detected. The splicing variant c.113-2A&gt;G led to a canonical splice acceptor site inactivation, exon 2 skipping, and in-frame deletions (p.Ala39_Gly65del). The three patients had similar phenotypes of milder PBDs, which were further genetically determined as PBD6B. The findings extend the <jats:italic>PEX10<\/jats:italic> variant spectrum and may provide new insights into PBDs causation and diagnosis, with implications for genetic counseling and clinical management.<\/jats:p>","DOI":"10.1371\/journal.pone.0322137","type":"journal-article","created":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:31:44Z","timestamp":1745429504000},"page":"e0322137","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":2,"title":["Identification of novel compound heterozygous variants in the PEX10 gene in a Han-Chinese family with PEX10-related peroxisome biogenesis 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