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This report evaluates the association of the gene ZXDC with acquired polycythemia vera (MONDO:0009891). In a Finnish familial study, whole‑exome sequencing identified a novel candidate variant, c.1254C>G (p.Phe418Leu), in ZXDC that co‑segregated with the disease in four affected individuals (PMID:28427458). Although additional screening in eight patients from six other Finnish families did not reveal further carriers of the variant, the clear segregation within the family provides preliminary genetic evidence of disease predisposition.
Functional data remain minimal with no detailed mechanistic studies available. The candidate variant suggests a potential effect on transcriptional regulation, yet further in vitro and in vivo experiments are required to establish the pathogenic mechanism. Overall, the genetic evidence for ZXDC in the predisposition to acquired polycythemia vera is considered limited, warranting additional research to support its clinical utility in diagnostic decision‑making.
Gene–Disease AssociationLimitedCandidate variant identified in a single Finnish family with 4 affected individuals (PMID:28427458); lack of replication in additional families reduces the overall strength of the association. Genetic EvidenceLimitedZXDC c.1254C>G (p.Phe418Leu) was reported in a familial setting with segregation in 4 affected individuals (PMID:28427458); further screening did not yield additional variant carriers. Functional EvidenceLimitedMinimal functional assessment data are available; experimental studies have not yet elucidated a definitive pathogenic mechanism for the ZXDC variant. |