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Article

Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.

Human mutation - 1 Feb 2017

Rendu John, Montjean Rodrick, Coutton Charles, Suri Mohnish, Chicanne Gaetan, Petiot Anne, Brocard Julie, Grunwald Didier, Pietri Rouxel France, Payrastre Bernard, Lunardi Joel, Dorseuil Olivier, Marty Isabelle, Fauré Julien

Abstract excerpt

Dent-2 disease and Lowe syndrome are two pathologies caused by mutations in inositol polyphosphate 5-phosphatase OCRL gene. Both conditions share proximal tubulopathy evolving to chronic kidney failure. Lowe syndrome is in addition defined by a bilateral congenital cataract, intellectual disability, and hypotonia. The pathology evolves in two decades to a severe condition with renal complications and a fatal...

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PMID: 27790796
DOI: 10.1002/humu.23139

Genes

OCRL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.PMID 27790796Read ↗

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The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.Semantic proximity Read ↗

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OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.Semantic proximity Read ↗

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