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Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe.
Department of Pediatrics, Children's Hospital of Philadelphia, PA.
A candidate gene, OCRL-1, for the oculocerebrorenal syndrome of Lowe (OCRL) has been identified via positional cloning strategies. We have now developed RT-PCR techniques which allow amplification of nearly all of the open reading frame from total RNA and have used the PCR products for mutational analysis. Single strand conformational polymorphism analysis detected aberrant migration in two unrelated patients, both of whom were shown to have the same nonsense mutation at base 2746 on direct sequencing. An additional patient was found to be missing a segment from his RNA that corresponds to an entire exon. The identification of mutations in the OCRL-1 gene provides strong genetic evidence for its being the gene involved in Lowe syndrome.
PMID: 8504307 [PubMed - indexed for MEDLINE]
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Cited by 9 PubMed Central articles
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Lowe syndrome.
Loi M.
Orphanet J Rare Dis. 2006 May 18; 1:16. Epub 2006 May 18.
[Orphanet J Rare Dis. 2006]
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Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome.
Ungewickell AJ, Majerus PW.
Proc Natl Acad Sci U S A. 1999 Nov 9; 96(23):13342-4.
[Proc Natl Acad Sci U S A. 1999]
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Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.
Satre V, Monnier N, Berthoin F, Ayuso C, Joannard A, Jouk PS, Lopez-Pajares I, Megabarne A, Philippe HJ, Plauchu H, et al.
Am J Hum Genet. 1999 Jul; 65(1):68-76.
[Am J Hum Genet. 1999]
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