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 journalArticle

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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

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Nephrotic Syndrome
Deafness
Chromosomes
Steroids
Genes
Chronic Kidney Failure
Organism Cloning
Genome

ASJC Scopus subject areas

  • Nephrology

Cite this

A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2. / Ruf, Rainer G.; Wolf, Matthias T F; Hennies, Hans C.; Lucke, Barbara; Zinn, Christina; Varnholt, Verena; Lichtenberger, Anne; Pasch, Andreas; Imm, Anita; Briese, Sonia; Lennert, Thomas; Fuchshuber, Arno; Nurnberg, Peter; Hildebrandt, Friedhelm.

In: Journal of the American Society of Nephrology, Vol. 14, No. 6, 01.06.2003, p. 1519-1522.

Research output: Contribution to journalArticle

Ruf, RG, Wolf, MTF, Hennies, HC, Lucke, B, Zinn, C, Varnholt, V, Lichtenberger, A, Pasch, A, Imm, A, Briese, S, Lennert, T, Fuchshuber, A, Nurnberg, P & Hildebrandt, F 2003, 'A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2', Journal of the American Society of Nephrology, vol. 14, no. 6, pp. 1519-1522. https://doi.org/10.1097/01.ASN.0000066141.55735.8D
Ruf, Rainer G. ; Wolf, Matthias T F ; Hennies, Hans C. ; Lucke, Barbara ; Zinn, Christina ; Varnholt, Verena ; Lichtenberger, Anne ; Pasch, Andreas ; Imm, Anita ; Briese, Sonia ; Lennert, Thomas ; Fuchshuber, Arno ; Nurnberg, Peter ; Hildebrandt, Friedhelm. / A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2. In: Journal of the American Society of Nephrology. 2003 ; Vol. 14, No. 6. pp. 1519-1522.
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