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, Friedhelm Hildebrandt

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

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 Zmax of 4.12 (θ = 0) for marker D14S1025 and a two-point LOD score of Zmax = 3.46 (θ = 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.

Original languageEnglish (US)
Pages (from-to)1519-1522
Number of pages4
JournalJournal of the American Society of Nephrology
Volume14
Issue number6
DOIs
StatePublished - Jun 1 2003

ASJC Scopus subject areas

  • Nephrology

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