Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p.
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.
Ruf
Rainer G
RG
Department of Pediatrics, University of Michigan Health System, 1150 W. Medical Center Drive, Ann Arbor, MI 48109-0646, USA.
Fuchshuber
Arno
A
Karle
Stephanie M
SM
Lemainque
Arnaud
A
Huck
Kirsten
K
Wienker
Thomas
T
Otto
Edgar
E
Hildebrandt
Friedhelm
F
D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003001:Cloning, Molecular; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D016678:Genome; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007223:Infant; D008126:Lod Score; D008297:Male; D008957:Models, Genetic; D009404:Nephrotic Syndrome / Q000235:genetics*; D010375:Pedigree
D005819:Genetic Markers