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Article

A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome.

The Tohoku journal of experimental medicine - 1 Mar 2014

Sugimoto Keisuke, Nishi Hitomi, Miyazawa Tomoki, Fujita Shinsuke, Okada Mitsuru, Takemura Tsukasa

Abstract excerpt

Oculocerebrorenal syndrome of Lowe (OCRL, OMIM 309000), also known as Lowe syndrome, is a rare X-linked multisystem disorder characterized by congenital cataracts, mental retardation, and Fanconi syndrome of the kidney proximal tubules. Lowe syndrome is caused by mutations in the gene encoding a member of the inositol polyphosphate-5-phosphatase protein family (OCRL1) on chromosome Xq26.1. OCRL1 contains 24 exons...

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Identifiers

PMID: 24614960
DOI: 10.1620/tjem.232.163

Genes

OCRL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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