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© 1993 Oxford University Press

OTHER

Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe

Ann-Marie Leahey1,2, Lawrence R. Charnas4 and Robert L. Nussbaum2,3,*

1Division of Hematology and Oncology, Department of Pediatrics, Children's Hospital of Philadelphia Philadelphia, PA 19104 2Department of Genetics, University of Pennsylvania School of Medicine Philadelphia, PA 19104 3Howard Hughes Medical Institute Philadelphia, PA 19104 4Unit on Neurogenetics, Human Genetics Branch, National Institute of Child Health and Development Bethesda, MD 20892, USA

* To whom correspondence should be addressed

Received December 22, 1992; Revised February 15, 1993; Accepted February 15, 1993

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.


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