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Article

Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis.

Prenatal diagnosis - 1 Mar 1999

Tsuru T, Yamagata T, Momoi M Y, Okabe I

Abstract excerpt

Prenatal screening of oculo-cerebro-renal syndrome of Lowe (OCRL; McKusick 309000) was performed using cultured amniocytes. Following identification of defective mRNA expression in the OCRL; gene of the proband's fibroblasts, the mRNA size and quantity of the cultured amniocytes were compared. Based on this analysis, the fetus was diagnosed as being normal and was subsequently delivered as a healthy boy. This is...

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Source

Identifiers

PMID: 10210129
DOI: 10.1002/(sici)1097-0223(199903)19:3<269::aid-pd519>3.0.co;2-l

Genes

OCRL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis.PMID 10210129Read ↗

A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.Semantic proximity Read ↗

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Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.Semantic proximity Read ↗

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

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Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.Semantic proximity Read ↗

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

Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of LoweSemantic proximity Read ↗

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family.Semantic proximity Read ↗

[Analysis of OCRL gene mutation in a male infant with Lowe syndrome].Semantic proximity Read ↗

[A case report of genetic analysis in the OCRL1 gene in Lowe syndrome].Semantic proximity Read ↗

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