BSND

Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome.

This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules in the kidney and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness.

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BSND as a Diagnostic Marker BSND is a key diagnostic marker in differentiating the chromophobe renal cell carcinoma (chRCC) from other types of RCC. chRCC is a type of kidney cancer that presents in the cell lining of the small tubules in the kidney. RNA-sequence data from The Cancer Genome Atlas revealed that BSND was one of three genes (alongside ATP6V1G3) with high RNA expression in chRCC. Strong, diffuse expression of BSND was observed in chRCC but not in clear cell RCC or papillary RCC. Additionally, BSND expression was found to correlate with lower DNA methylation near the transcription start site, indicating the presence of epigenetic regulation. This expression reveals BSND's potential to serve as a major immunohistochemical marker for distinguishing chRCC from other forms of RCC.

BSND immunohistochemistry is also pivotal in differentiating oncocytic and Warthin-like MECs in salivary gland neoplasms. Greater than 10% BSND positivity helps distinguish Warthin tumors from Warthin-like MECs and greater than 20% BSND positivity helps distinguish oncocytomas from oncocytic MECs.

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Further reading

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