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In a cohort of 45 autosomal recessive Ellis-van Creveld syndrome families, biallelic variants in PRKACB were identified in one family (2.2%) (PMID:35927022). No detailed variant descriptions were provided for PRKACB, and additional segregation beyond the proband was not reported, precluding assessment of familial transmission. Functional studies directly linking PRKACB disruption to the Ellis-van Creveld phenotype are absent, and no genotype–phenotype correlations or recurrent alleles in PRKACB have been established within this context. Taken together, current evidence for PRKACB as a causative gene in Ellis-van Creveld syndrome remains limited.
Key take-home: PRKACB should be considered a tentative, low-frequency contributor to Ellis-van Creveld syndrome, warranting further genetic and functional validation before incorporation into diagnostic panels.
Gene–Disease AssociationLimitedPRKACB variants identified in 1 of 45 families (2.2%) (PMID:35927022) Genetic EvidenceLimitedSingle AR proband with biallelic PRKACB involvement; no segregation or detailed variant data Functional EvidenceNo evidenceNo functional or experimental studies of PRKACB in Ellis-van Creveld syndrome context |