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Article

From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.

Human mutation - 1 Apr 2011

Hichri Haifa, Rendu John, Monnier Nicole, Coutton Charles, Dorseuil Olivier, Poussou Rosa Vargas, Baujat Geneviève, Blanchard Anne, Nobili François, Ranchin Bruno, Remesy Michel, Salomon Rémi, Satre Véronique, Lunardi Joel

Abstract excerpt

Mutations of OCRL1 are associated with both the Lowe oculocerebrorenal syndrome, a multisystemic and Dent-2 disease, a renal tubulopathy. We have identified a mutation in 130 Lowe syndrome families and 6 affected by Dent-2 disease with 51 of these mutations being novel. No founding effect was evi...

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Identifiers

PMID: 21031565
DOI: 10.1002/humu.21391

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21031565-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.PMID 21031565Read ↗

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.Semantic proximity Read ↗

Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.Semantic proximity Read ↗

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.Semantic proximity Read ↗

The oculocerebrorenal syndrome of Lowe: an update.Semantic proximity Read ↗

A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.Semantic proximity Read ↗

Novel mutation of OCRL1 in Lowe syndrome.Semantic proximity Read ↗

Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.Semantic proximity Read ↗

Dent Disease with mutations in OCRL1.Semantic proximity Read ↗

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.Semantic proximity Read ↗

OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.Semantic proximity Read ↗

Novel OCRL1 mutations in patients with the phenotype of Dent disease.Semantic proximity Read ↗

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.Semantic proximity Read ↗

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