Barttin
Mutations of the BSND gene are responsible for autosomal recessive infantile Bartter syndrome with deafness.
Epidemiology
Although exact data are not available, mutation in this gene are thought to occur 1 in 50,000-100,000 newborn.
Genetests:
Related Diseases:
References:
1. |
Birkenhäger R et al. (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
|
2. |
Estévez R et al. (2001) Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.
|
3. |
Scholl U et al. (2006) Barttin modulates trafficking and function of ClC-K channels.
|
4. |
Orphanet article
Orphanet ID 119089
|
5. |
NCBI article
NCBI 7809
|
6. |
OMIM.ORG article
Omim 606412
|
7. |
Wikipedia article
Wikipedia EN (BSND)
|
Update: Aug. 14, 2020