ArticleFrontiers in endocrinology2026
Functional and structural characterization of
Article in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Pathogenic Methods: We identified a novel homozygous splice variant (c.1249-2A>C) in a patient with disorders of sex development and Antley-Bixler syndrome -like skeletal malformations. By reviewing 12 published cases and performing minigene assays on five variants (c.731 + 1G>A, c.732-2A>T, c.947 + 1G>A, c.948-30G>A, c.1249-2A>C), we characterized their splicing outcomes. Structural consequences were predicted using AlphaFold; nonsense-mediated mRNA degradation was assessed for c.1249-2A>C using cycloheximide block. Results: c.731 + 1G>A and c.947 + 1G>A caused intron retention with premature termination, deleting FAD/NADPH-binding domains. c.732-2A>T and c.1249-2A>C skipped exons 8 and 12, which altered FAD-binding site conformation. c.1249-2A>C mRNA reduction was not rescued by cycloheximide, arguing against NMD and suggesting nuclear retention or intranuclear decay. We classified two variants as pathogenic (c.731 + 1G>A, c.947 + 1G>A), two as likely pathogenic (c.732-2A>T and the novel c.1249-2A>C), and one as likely benign (c.948-30G>A). Conclusion: Our findings establish that
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