Renal Tubulopathies and related disorders

Gene: CLCNKA

I don't know

Two families reported, and note digenic inheritance postulated.

PMID: 15044642 - Schlingmann et al 2004 - in a child with a child with renal salt wasting and deafness, they identified both a homozygous deletion of the CLCNKB gene and a homozygous trp80-to-cys mutation in the CLCNKA gene (W80C).

PubMed: 18310267- Nozu et al 2008 - 2-year-old Japanese girl with a severe form of Bartter syndrome with sensorineural deafness. Parents were nonconsanguineous. They found 2 heterozygous mutations in the CLCNKA and CLCNKB genes on the paternal allele, and a 12-kb deletion involving portions of the CLCNKA and CLCNKB genes on the maternal allele. Neither parent was clinically affected.

Created: 30 Jan 2020, 3:29 a.m. | Last Modified: 30 Jan 2020, 3:29 a.m.

Panel Version: 0.2

Mode of inheritance
Other

Phenotypes
Bartter syndrome, type 4b, digenic; OMIM #613090

Publications

• 15044642
• 18310267

I don't know

PMID: 15044642 - Schlingmann et al 2004 - in a child with a child with renal salt wasting and deafness, they identified both a homozygous deletion of the CLCNKB gene and a homozygous trp80-to-cys mutation in the CLCNKA gene (W80C).

PubMed: 18310267- Nozu et al 2008 - 2-year-old Japanese girl with a severe form of Bartter syndrome with sensorineural deafness. Parents were nonconsanguineous. They found 2 heterozygous mutations in the CLCNKA and CLCNKB genes on the paternal allele, and a 12-kb deletion involving portions of the CLCNKA and CLCNKB genes on the maternal allele. Neither parent was clinically affected.

The findings indicated digenic inheritance in patients with loss of function of all 4 alleles of the CLCNKA and CLCNKB genes resulting in Bartter syndrome type 4B

Created: 9 Jan 2020, 4:45 a.m. | Last Modified: 9 Jan 2020, 4:45 a.m.

Panel Version: 0.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome, type 4b, digenic; OMIM #613090

Publications

• PubMed: 15044642, 18310267,