CAKUT

Gene: FOXC1

I don't know

Seven FOXC1 'pathogenic' variants in 8 CAKUT families identified through WES. All individuals carrying the FOXC1 pathogenic variants are heterozygote. There was incomplete penetrance and variable expressivity in families. None of the 7 pathogenic variants were reported before in patients with Axenfeld–Rieger syndrome, anterior segment dysgenesis, or congenital glaucoma. Two of the seven pathogenic variants are novel, i.e., they were never observed in the population database before, including the gnomAD database that collects 141,456 control individuals.34 The other five pathogenic variants, though reported in the population database, are present in less than five individuals as a heterozygote. The locations of these pathogenic variants do not cluster in the forkhead domain (where variants causing Axenfeld–Rieger syndrome or anterior segment dysgenesis are located).

Created: 5 Oct 2020, 9:13 a.m. | Last Modified: 5 Oct 2020, 9:13 a.m.

Panel Version: 1.153

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital anomalies of the kidney and urinary tract (CAKUT)

Publications

• 32475988

Red List (low evidence)