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Article

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

Klinische Padiatrie - 1 Jan 2013

Pasternack S M, Böckenhauer D, Refke M, Tasic V, Draaken M, Conrad C, Born M, Betz R C, Reutter H, Ludwig M

Abstract excerpt

The oculocerebrorenal syndrome of Lowe is an X-linked recessive disorder characterized by the triad of congenital cataracts, mental retardation and a renal proximal tubulopathy. Although severity of phenotype might vary, congenital cataracts are part of the definition of this rare disorder.We report a 13-year-old patient with the typical cerebrorenal phenotype of Lowe syndrome, that had remained undiagnosed due...

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Source

Identifiers

PMID: 22915452
DOI: 10.1055/s-0032-1321900

Genes

OCRL

Variants

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.PMID 22915452Read ↗

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of 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 ↗

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

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

Two cases of Lowe syndrome caused by a novel mutation in OCRL gene in a familySemantic proximity Read ↗

[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene].Semantic proximity Read ↗

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

Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe.Semantic proximity Read ↗

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.Semantic proximity Read ↗

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

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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