Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p

J Am Soc Nephrol. 2003 Jul;14(7):1897-900. doi: 10.1097/01.asn.0000070070.03811.02.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2*
  • Cloning, Molecular
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Genome
  • Haplotypes
  • Homozygote
  • Humans
  • Infant
  • Lod Score
  • Male
  • Models, Genetic
  • Nephrotic Syndrome / genetics*
  • Pedigree

Substances

  • Genetic Markers