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Article

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.

American journal of human genetics - 1 Jun 1997

Lin T, Orrison B M, Leahey A M, Suchy S F, Bernard D J, Lewis R A, Nussbaum R L

Abstract excerpt

The oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, mental retardation, and renal Fanconi syndrome. The OCRL1 gene, which, when mutated, is responsible for OCRL, encodes a 105-kD Golgi protein with phosphatidylinositol (4,5)bisphosphate (PtdIn[4,5]P2) 5-phosphatase activity. We have examined the OCRL1 gene in 12 independent patients with OCRL and have...

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Source

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Identifiers

PMID: 9199559
DOI: 10.1086/515471
PMCID: PMC1716142

Genes

OCRL

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.PMID 9199559Read ↗

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

Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.Semantic proximity Read ↗

Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.Semantic proximity Read ↗

A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome.Semantic proximity Read ↗

Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.Semantic proximity Read ↗

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

Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.Semantic proximity Read ↗

Structure and function of the Lowe syndrome protein OCRL1.Semantic proximity Read ↗

Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.Semantic proximity Read ↗

Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.Semantic proximity Read ↗

Novel OCRL mutations in Chinese children with Lowe syndrome.Semantic proximity Read ↗

OCRL mutation analysis in Italian patients with Lowe syndrome.Semantic proximity Read ↗

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