Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2003 Jul;14(7):1897-900.
doi: 10.1097/01.asn.0000070070.03811.02.

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

Rainer G Ruf  1 , Arno Fuchshuber, Stephanie M Karle, Arnaud Lemainque, Kirsten Huck, Thomas Wienker, Edgar Otto, Friedhelm Hildebrandt
Affiliations

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

Rainer G Ruf et al. J Am Soc Nephrol. 2003 Jul.

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

  • Molecular and genetic basis of inherited nephrotic syndrome.
    Gigante M, Piemontese M, Gesualdo L, Iolascon A, Aucella F. Gigante M, et al. Int J Nephrol. 2011;2011:792195. doi: 10.4061/2011/792195. Epub 2011 Sep 6. Int J Nephrol. 2011. PMID: 21904677 Free PMC article.
  • Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.
    Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, Tête MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Deschênes G, Dolhem P, Durand D, Ekinci Z, El Karoui K, Fischbach M, Grunfeld JP, Guigonis V, Hachicha M, Hogan J, Hourmant M, Hummel A, Kamar N, Krummel T, Lacombe D, Llanas B, Mesnard L, Mohsin N, Niaudet P, Nivet H, Parvex P, Pietrement C, de Pontual L, Noble CP, Ribes D, Ronco P, Rondeau E, Sallee M, Tsimaratos M, Ulinski T, Salomon R, Antignac C, Boyer O. Dorval G, et al. Pediatr Nephrol. 2018 Mar;33(3):473-483. doi: 10.1007/s00467-017-3819-9. Epub 2017 Oct 23. Pediatr Nephrol. 2018. PMID: 29058154
  • The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy.
    Tonna S, Wang YY, Wilson D, Rigby L, Tabone T, Cotton R, Savige J. Tonna S, et al. Pediatr Nephrol. 2008 Dec;23(12):2201-7. doi: 10.1007/s00467-008-0934-7. Epub 2008 Aug 26. Pediatr Nephrol. 2008. PMID: 18726620
  • Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood.
    Dufek-Kamperis S, Kleta R, Bockenhauer D, Gale D, Downie ML. Dufek-Kamperis S, et al. Pediatr Nephrol. 2021 Aug;36(8):2165-2175. doi: 10.1007/s00467-020-04780-4. Epub 2020 Oct 21. Pediatr Nephrol. 2021. PMID: 33084934 Review.
  • Steroid-sensitive nephrotic syndrome in two families.
    Motoyama O, Sugawara H, Hatano M, Fujisawa T, Iitaka K. Motoyama O, et al. Clin Exp Nephrol. 2009 Apr;13(2):170-173. doi: 10.1007/s10157-008-0117-7. Epub 2008 Dec 16. Clin Exp Nephrol. 2009. PMID: 19085042
See all "Cited by" articles

Publication types

Substances

LinkOut - more resources