Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

doi:10.1681/ASN.2005121305

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Article

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

Journal of the American Society of Nephrology : JASN - 1 May 2006

Vargas-Poussou Rosa, Houillier Pascal, Le Pottier Nelly, Strompf Laurence, Loirat Chantal, Baudouin Véronique, Macher Marie-Alice, Déchaux Michèle, Ulinski Tim, Nobili François, Eckart Philippe, Novo Robert, Cailliez Mathilde, Salomon Rémi, Nivet Hubert, Cochat Pierre, Tack Ivan, Fargeot Anne, Bouissou François, Kesler Gwenaelle Roussey, Lorotte Stéphanie, Godefroid Nathalie, Layet Valérie, Morin Gilles, Jeunemaître Xavier, Blanchard Anne

Abstract excerpt

Mutations in the ATP6V1B1 and ATP6V0A4 genes, encoding subunits B1 and 4 of apical H(+) ATPase, cause recessive forms of distal renal tubular acidosis (dRTA). ATP6V1B mutations have been associated with early sensorineural hearing loss (SNHL), whereas ATP6V0A4 mutations are classically associated...

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PMID: 16611712
DOI: 10.1681/ASN.2005121305

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16611712-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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