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Article

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

Human genetics - 1 May 2011

Draaken Markus, Giesen Carmen A, Kesselheim Anne L, Jabs Ronald, Aretz Stefan, Kugaudo Monika, Chrzanowska Krystyna H, Krajewska-Walasek Malgorzata, Ludwig Michael

Abstract excerpt

Since the identification of the Lowe's oculocerebrorenal syndrome gene, more than 100 distinct OCRL mutations have been observed. Germline mosaicism has rarely been detected in Lowe families; however, the presence of mosaic mutations, in particular triple mosaicism, may often remain undiagnosed. In the course of OCRL analysis in a Polish family, the index case showed a hemizygous nucleotide transition (c.1736A>G,...

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PMID: 21225285
DOI: 10.1007/s00439-010-0944-y

Genes

OCRL

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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.

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