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

• Published in: Journal of the American Society of Nephrology Vol. 14; no. 7; pp. 1897 - 1900
• Main Authors: Ruf, Rainer G., Fuchshuber, Arno, Karle, Stephanie M., Lemainque, Arnaud, Huck, Kirsten, Wienker, Thomas, Otto, Edgar, Hildebrandt, Friedhelm
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 01.07.2003
• Subjects: Age of Onset; Biological and medical sciences; Child; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 2; Cloning, Molecular; Female; Genetic Linkage; Genetic Markers; Genome; Glomerulonephritis; Haplotypes; Homozygote; Humans; Infant; Lod Score; Male; Medical sciences; Models, Genetic; Nephrology. Urinary tract diseases; Nephropathies. Renovascular diseases. Renal failure; Nephrotic Syndrome - genetics; Pedigree; Glomerulonephritis; Kidney disease; Human; Urinary system disease; Linkage; Family study; Etiopathogenesis; Nephrotic syndrome; Chromosome 2; Genetic determinism; Loss of heterozygosity; Locus; Child
• ISSN: 1046-6673
• DOI: 10.1097/01.ASN.0000070070.03811.02

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.