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Updated: Sep 25, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p
Rainer G Ruf1, Arno Fuchshuber, Stephanie M Karle
1Department of Pediatrics, University of Michigan Health System, 1150 W. Medical Center Drive, Ann Arbor, MI 48109-0646, USA.
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 Z(max) = 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.
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