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CFAP47 has emerged as a potential X-linked recessive cause of polycystic kidney disease, with three unrelated male probands each harboring rare missense variants in CFAP47 (c.2609G>A (p.Arg870Gln)) identified in a cohort of 118 sporadic cystic kidney disease cases and 47 whole genomes screened in the absence of known gene mutations ([PMID:39698362]). CFAP47 protein localizes to the primary cilia of human renal tubules, and CFAP47−/Y knockout mice exhibit pronounced tubular cell vacuolation and dilation, closely mirroring the human cystic phenotype ([PMID:39698362]). No affected relatives were reported, reflecting the sporadic nature of these X-linked cases. The genetic evidence is currently limited to three probands with missense alleles in CFAP47. Functional studies provide moderate support through concordant animal model data. Additional unrelated cases and family segregation data are needed to upgrade the clinical validity beyond a Limited classification. Key take-home: CFAP47 should be considered in genetic testing panels for unresolved cystic kidney disease, particularly in sporadic male cases.
Gene–Disease AssociationLimitedThree unrelated male probands with rare CFAP47 missense variants and supporting knockout mouse model data Genetic EvidenceLimitedThree missense variants in unrelated sporadic male cases reaching minimal genetic evidence Functional EvidenceModerateCFAP47 expression in renal cilia and CFAP47−/Y mouse model recapitulating tubular cystic changes |