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

Gene: BNC2

Green List (high evidence)

At least four unrelated families reported.
Sources: Expert list

Created: 16 Jan 2020, 7:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lower urinary tract obstruction, congenital; OMIM #618612

Publications

• 31656805
• 31051115

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Kolvenbach CM et al., (2019) supports the rating of this gene from Amber to Green. Though exome sequencing in a family with four affected individuals with anatomical blockage of the urethra identified a rare nonsense variant (c.2557C>T [p.Arg853∗]) in BNC2, encoding basonuclin 2, tracking with LUTO over three generations. Re-sequencing BNC2 in 697 individuals with LUTO revealed three further independent missense variants in three unrelated families. In human and mouse embryogenesis, basonuclin 2 was detected in lower urinary-tract rudiments. In zebrafish embryos, bnc2 was expressed in the pronephric duct and cloaca, analogs of the mammalian lower urinary tract. Experimental knockdown of Bnc2 in zebrafish caused pronephric-outlet obstruction and cloacal dilatation, phenocopying human congenital LUTO. Collectively, these results support the conclusion that variants in BNC2 are strongly implicated in LUTO etiology as a result of anatomical blockage.
Sources: Literature

Created: 16 Jan 2020, 3:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lower urinary tract obstruction, congenital; OMIM #618612

Publications

• PMID: 31656805, 31051115