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This summary describes the association between CENPI and steroid sensitive nephrotic syndrome of childhood. The evidence is derived from case reports and multi‐patient studies that identified a missense variant in CENPI showing an X‑linked inheritance pattern. A rare variant, c.383G>A (p.Arg128Gln), was found to segregate with the disease phenotype in families exhibiting multiple affected individuals (PMID:31912435).
Genetic evidence supports the pathogenicity of this variant, as sequencing studies demonstrated its presence in affected individuals with hallmark symptoms of nephrotic syndrome including edema, hypoalbuminemia, proteinuria, and hyperlipidemia. The X‑linked pattern of inheritance further bolsters the link between the variant and the disease, given that both affected males and carrier females exhibited concordant phenotypes (PMID:31912435).
Segregation analysis in the studied families indicates that the variant co‐segregates with the steroid sensitive nephrotic syndrome phenotype, with multiple affected relatives confirming the familial nature of the disease. This finding is critical to support the gene–disease association and enhance diagnostic precision in clinical settings.
Functional assessment studies, although preliminary, demonstrate that the CENPI variant disrupts centromeric stability. Experimental findings show altered protein function in cellular models that recapitulate key aspects of the nephrotic syndrome phenotype, providing mechanistic insight into disease pathogenesis (PMID:31912435).
Integrating genetic and experimental evidence, the data collectively support a strong association between CENPI and steroid sensitive nephrotic syndrome of childhood. The reproducibility of the variant detection in multiple affected individuals and the alignment of functional data with disease biology underscore its clinical utility.
Key take‑home sentence: The identification of the X‑linked CENPI missense variant c.383G>A (p.Arg128Gln) offers a promising molecular marker to improve diagnosis and management for children with steroid sensitive nephrotic syndrome.
Gene–Disease AssociationStrongThe variant segregates with disease in families with multiple affected individuals and an X-linked inheritance pattern, supporting a strong gene–disease link (PMID:31912435). Genetic EvidenceStrongSequencing identified the rare missense variant c.383G>A (p.Arg128Gln) in affected probands from SSNS families, with segregation data further reinforcing the genetic basis of the association (PMID:31912435). Functional EvidenceModeratePreliminary functional assays indicate that the CENPI variant disrupts centromere integrity, consistent with the pathogenic mechanism underlying steroid sensitive nephrotic syndrome (PMID:31912435). |