Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis

Détails

ID Serval
serval:BIB_2BCBB032356A
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis
Périodique
Human Molecular Genetics
Auteur(s)
Fuchshuber  A., Jean  G., Gribouval  O., Gubler  M. C., Broyer  M., Beckmann  J. S., Niaudet  P., Antignac  C.
ISSN
0964-6906 (Print)
Statut éditorial
Publié
Date de publication
11/1995
Volume
4
Numéro
11
Pages
2155-8
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Nov
Résumé
Idiopathic nephrotic syndrome (INS) in childhood is characterized by massive proteinuria and minimal glomerular changes. Most patients with INS respond to steroid therapy. INS is generally regarded as a sporadic disease with favorable outcome. We investigated a distinct subgroup of nephrosis--the familial form of steroid resistant INS (SRN). These patients always progress to end-stage renal failure within a few years and show absence of recurrence of the disease after renal transplantation. The occurrence of the disorder in siblings and the high incidence of inbreeding in these families made an autosomal recessive mode of inheritance very likely. We performed whole genome linkage analysis in nine multiplex families of European or Northern African origin. Our results allowed us to assign a disease locus (SRN1) to a defined chromosomal region on 1q25-1q31, thus confirming the existence of a distinct entity of autosomal recessive nephrosis. Exclusion of linkage to the entire region in one family proves genetic heterogeneity.
Mots-clé
Chromosome Mapping *Chromosomes, Human, Pair 1 Female *Genes, Recessive Humans Male Nephrotic Syndrome/*genetics Pedigree
Pubmed
Web of science
Création de la notice
25/01/2008 17:17
Dernière modification de la notice
03/03/2018 15:25
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