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CFAP52 – Situs Inversus

CFAP52 (HGNC:16053) has been implicated in autosomal recessive situs inversus totalis without primary ciliary dyskinesia. In a genomic sequencing study of 15 individuals with situs inversus, one non-PCD case harbored biallelic loss-of-function variants in CFAP52, with no respiratory phenotypes or family segregation reported (PMID:32111882).

Functional assessment using F0 CRISPR/Cas9 zebrafish crispant models demonstrated that cfap52 disruption leads to ciliary defects and laterality disturbances analogous to human situs inversus (PMID:36533556). Together, these data support a Limited gene–disease association under ClinGen criteria, pending replication in additional unrelated families and segregation analyses.

Key take-home: CFAP52 should be considered in diagnostic gene panels for non-PCD situs inversus to improve molecular yield.

References

  • Scientific Reports • 2020 • The genetics of situs inversus without primary ciliary dyskinesia. PMID:32111882
  • Disease Models & Mechanisms • 2022 • Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants. PMID:36533556

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

One unrelated proband with biallelic CFAP52 variants and no segregation data ([PMID:32111882])

Genetic Evidence

Limited

Single recessive proband reported without family segregation or additional cases ([PMID:32111882])

Functional Evidence

Moderate

F0 CRISPR/Cas9 zebrafish crispant models for cfap52 recapitulate ciliary laterality defects ([PMID:36533556])