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Article

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

American journal of human genetics - 1 Jul 1999

Satre V, Monnier N, Berthoin F, Ayuso C, Joannard A, Jouk P S, Lopez-Pajares I, Megabarne A, Philippe H J, Plauchu H, Torres M L, Lunardi J

Abstract excerpt

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. Mutations in the OCRL1 gene have been associated with the disease. OCRL1 encodes a phosphatidylinositol 4, 5-biphosphate (PtdIns[4,5]P2) 5-phosphatase. We have examined the OCRL1 gene in eight unrelated patients with OCRL and have found seven new mutations and one...

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Open in PubMed Open full text

Identifiers

PMID: 10364518
DOI: 10.1086/302443
PMCID: PMC1378076

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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Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.PMID 10364518Read ↗

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

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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 ↗

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

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