Renal Macrocystic Disease
Gene: CFAP47
3 Japanese individuals with bilateral kidney cysts with mild enlargement of kidneys (mean age at Dx ~70yrs). They were all undergoing treatment for hypertension, had mean eGFR of ~31, None of them had any liver cysts, infertility, or any family history of cystic kidney disease.
WGS after negative clinical diagnostic testing, identified 3 missense variants in CFAP47 gene [p.(Arg870Gln), p.(Phe516Cys), and p.(Gly6Asp)]. The variants were rare in gnomAD but had equivocal in silico prediction scores, and would be reported as VUS using ACMG criteria. Segregation was not possible as their mothers were deceased.
CFAP47 encodes cilia and flagella associated protein 47 a protein that plays a role in the formation and function of cilia and flagella. It is is expressed in primary cilia of human kidney tubules. Knockout (KO) mice exhibited larger kidneys with vacuolation of tubular cells and tubular dilation, providing evidence that CFAP47 is a causative gene involved in cyst formation.
Sources: LiteratureCreated: 5 Mar 2025, 11:44 p.m. | Last Modified: 5 Mar 2025, 11:48 p.m.
Panel Version: 0.79
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Cystic kidney disease MONDO:0002473
Publications
Gene: cfap47 has been classified as Amber List (Moderate Evidence).
gene: CFAP47 was added gene: CFAP47 was added to Renal Macrocystic Disease. Sources: Literature Mode of inheritance for gene: CFAP47 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CFAP47 were set to PMID: 39698362 Phenotypes for gene: CFAP47 were set to Cystic kidney disease MONDO:0002473 Review for gene: CFAP47 was set to AMBER