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Article

Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis.

BMC medical genomics - 12 Nov 2021

Ullah Ihsan, Ottlewski Isabel, Shehzad Wasim, Riaz Amjad, Ijaz Sadaqat, Tufail Asad, Ammara Hafiza, Mane Shrikant, Shril Shirlee, Hildebrandt Friedhelm, Zahoor Muhammad Yasir, Majmundar Amar J

Abstract excerpt

BACKGROUND: Nephrolithiasis (NL) affects 1 in 11 individuals worldwide and causes significant morbidity and cost. Common variants in the calcium sensing receptor gene (CaSR) have been associated with NL. Rare inactivating CaSR variants classically cause hyperparathyroidism, hypercalcemia and hypocalciuria. However, NL and familial hypercalciuria have been paradoxically associated with select inactivating CaSR...

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PMID: 34772415
DOI: 10.1186/s12920-021-01116-5
PMCID: PMC8588693

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