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A Gene Locus for Steroid-Resistant Nephrotic Syndrome with Deafness Maps to Chromosome 14q24.2

Rainer G. Ruf^*, Matthias T. F. Wolf^*, Hans C. Hennies, Barbara Lucke, Christina Zinn, Verena Varnholt, Anne Lichtenberger^*, Andreas Pasch, Anita Imm, Sonia Briese, Thomas Lennert^¶, Arno Fuchshuber, Peter Nurnberg^,# and Friedhelm Hildebrandt^*

*Departments of Pediatrics and Human Genetics, University of Michigan, Ann Arbor, Michigan; Gene Mapping Center and Department of Molecular Genetics, Max-Delbrueck Center for Molecular Medicine, Berlin-Buch, Germany; Department of Pediatrics, University Hospital Charite, Campus Virchow Klinikum, Humboldt-University, Berlin, Germany; Children’s University Hospital, Freiburg, Germany; ^¶Department of Pediatrics, University Hospital Benjamin Franklin, Free University, Berlin, Germany; and ^#Institute of Medical Genetics, Charité University Hospital, Humboldt University, Berlin, Germany.

Correspondence to Dr. Friedhelm Hildebrandt, University of Michigan Health System, 8220C MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI 48109-0646; Phone: 734-615-7285; Fax: 734-615-1386;

ABSTRACT. Steroid-resistant nephrotic syndrome (SRNS) leads to end-stage renal disease (ESRD) in childhood or young adulthood. Positional cloning for genes causing SRNS has opened the first insights into the understanding of its pathogenesis. This study reports a genome-wide search for linkage in a consanguineous Palestinian kindred with SRNS and deafness and detection of a region of homozygosity on chromosome 14q24.2. Multipoint analysis of 12 markers used for further fine mapping resulted in a LOD score Z_max of 4.12 ( = 0) for marker D14S1025 and a two-point LOD score of Z_max = 3.46 ( = 0) for marker D14S77. Lack of homozygosity defined D14S1065 and D14S273 as flanking markers to a 10.7 cM interval. The identification of the responsible gene will provide new insights into the molecular basis of nephrotic syndrome and sensorineural deafness. E-mail: fhilde@umich.edu

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Copyright © 2008 by the American Society of Nephrology. Online ISSN: 1533-3450 Print ISSN: 1046-6673