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J Am Soc Nephrol 14:1897-1900, 2003
© 2003 American Society of Nephrology

BRIEF COMMUNICATION

Identification of the First Gene Locus (SSNS1) for Steroid-Sensitive Nephrotic Syndrome on Chromosome 2p

Rainer G. Ruf*, Arno Fuchshuber{dagger}, Stephanie M. Karle{dagger}, Arnaud Lemainque{ddagger}, Kirsten Huck{dagger}, Thomas Wienker§, Edgar Otto* and Friedhelm Hildebrandt*

*Departments of Pediatrics and Human Genetics, University of Michigan, Ann Arbor, Michigan; {dagger}University Children’s Hospital, Freiburg University, Freiburg, Germany; {ddagger}Centre National de Genotypage, Evry, France; and §Institute for Medical Statistics, University of Bonn, Bonn, Germany.

Correspondence to Dr. Friedhelm Hildebrandt, University of Michigan Health System, Department of Pediatrics, 8220C MSRB III, Box 0646, 1150 W. Medical Center Drive, Ann Arbor, MI 48109-0646. Phone: 1-734-615-7285; Fax: 1-734-615-1386 or -7770;

Abstract

ABSTRACT. Disease mechanisms of steroid-sensitive nephrotic syndrome (SSNS) remain unknown. Whereas gene identification has furthered the understanding of pathomechanisms in steroid-resistant nephrotic syndrome (SRNS), not even a gene locus is known for SSNS. Total genome linkage analysis was performed in a consanguineous SSNS kindred to identify a gene locus for SSNS. Homozygosity mapping identified a locus for SSNS on chromosome 2p12-p13.2 between markers D2S292 and D2S289 (multipoint LOD score Zmax = 3.01 at D2S145). The first gene locus for SSNS, as a first step to detect the responsible gene, was thus identified. There was clear evidence for genetic locus heterogeneity upon examination of ten additional families with SSNS. E-Mail: fhilde@umich.edu




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