Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.

doi:10.1016/j.kint.2019.09.026

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Article

Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.

Kidney international - 1 Mar 2020

Jobst-Schwan Tilman, Klämbt Verena, Tarsio Maureen, Heneghan John F, Majmundar Amar J, Shril Shirlee, Buerger Florian, Ottlewski Isabel, Shmukler Boris E, Topaloglu Rezan, Hashmi Seema, Hafeez Farkhanda, Emma Francesco, Greco Marcella, Laube Guido F, Fathy Hanan M, Pohl Martin, Gellermann Jutta, Milosevic Danko, Baum Michelle A, Mane Shrikant, Lifton Richard P, Kane Patricia M, Alper Seth L, Hildebrandt Friedhelm

Abstract excerpt

Distal renal tubular acidosis is a rare renal tubular disorder characterized by hyperchloremic metabolic acidosis and impaired urinary acidification. Mutations in three genes (ATP6V0A4, ATP6V1B1 and SLC4A1) constitute a monogenic causation in 58-70% of familial cases of distal renal tubular acidosis. Recently, mutations in FOXI1 have been identified as an additional cause. Therefore, we hypothesized that further...

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PMID: 31959358
DOI: 10.1016/j.kint.2019.09.026
PMCID: PMC7039771

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