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Evidence from a recent investigation (PMID:31912435) supports a candidate association between CENPI (HGNC:3968) and nephrotic syndrome (MONDO:0005377). In a cohort of steroid sensitive nephrotic syndrome families, sequencing of 66 candidate genes identified a rare missense variant, c.383G>A (p.Arg128Gln), in CENPI. Sanger sequencing confirmed an X‑linked segregation pattern among affected individuals, with multiple affected relatives showing co‐segregation of the variant (PMID:31912435). Although functional assessment data remain preliminary, early studies suggest that alteration in CENPI may disrupt centromere function and thereby contribute to the nephrotic phenotype.
In summary, while the association is based on a single study with segregation evidence in a multigenerational family, the identification of a potentially pathogenic CENPI variant provides a basis for further research. Additional genetic and functional studies are needed to replicate and extend these findings, but this evidence already offers valuable insights for diagnostic decision‑making and may drive improvements in the molecular evaluation and clinical management of nephrotic syndrome.
Gene–Disease AssociationLimitedA single study reported a rare missense variant in CENPI in families with steroid sensitive nephrotic syndrome, with segregation observed among affected relatives (PMID:31912435). Genetic EvidenceLimitedOne missense variant, c.383G>A (p.Arg128Gln), was identified in a family with multiple affected individuals showing X‑linked segregation, although evidence is limited to a single study (PMID:31912435). Functional EvidenceLimitedPreliminary functional assessments suggest a potential disruption of centromere function by the identified variant; however, additional studies are needed to solidify the mechanistic link. |