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Article

Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.

Molecular genetics and metabolism - 1 May 1998

Lin T, Orrison B M, Suchy S F, Lewis R A, Nussbaum R L

Abstract excerpt

Lowe syndrome (OCRL) is an X-linked disorder involving the eyes, kidney, and nervous system that is caused by loss of function in the OCRL1 gene. OCRL1 contains 24 exons (23 of which are coding) and encodes a 105-kDa enzyme with phosphatidylinositol 4,5 bisphosphate (PtdIns[4,5]P2) 5-phosphatase...

Topics

Alleles
Alternative Splicing
Cell Line
Codon, Terminator
Exons
Fibroblasts
Frameshift Mutation
Genetic Testing
Humans
Lymphocytes
Male
Mutation
Oculocerebrorenal Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phosphoric Monoester Hydrolases

Point Mutation

Polymorphism, Single-Stranded Conformational

Proteins

Sequence Analysis, DNA

Source

Identifiers

PMID: 9682219
DOI: 10.1006/mgme.1998.2687

Genes

CGA
OCRL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9682219-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.PMID 9682219Read ↗

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

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

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

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

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

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

Dent Disease with mutations in OCRL1.Semantic proximity Read ↗

Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome.Semantic proximity Read ↗

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

Novel mutation of OCRL1 in 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 ↗

Genotype & Phenotype in Lowe Syndrome: Specific <i>OCRL1</i> patient mutations differentially impact cellular phenotypesSemantic proximity Read ↗

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