Congenital nephrotic syndrome of the Finnish type: Linkage to the locus in a non-Finnish population
Fuchshuber, A.; Niaudet, P.; Gribouval, O.; Jean, G.; Gubler, M.C.; Broyer, M.; Antignac, C.
Pediatric Nephrology 10(2): 135-138
1996
ISSN/ISBN: 0931-041X PMID: 8703694 DOI: 10.1007/bf00862052Document Number: 315028
Congenital nephrotic syndrome of the Finnish type (CNF) is inherited as an autosomal recessive trait. The biochemical basis of the disease is unknown, although a lesion in the glomerular basement membrane is strongly suggested. Recently, the CNF locus was assigned to chromosome 19q12-q13.1 on the basis of linkage analysis in Finnish families. The high incidence of the disease in Finland, as well as the demonstration of linkage disequilibrium in the Finnish study, strongly suggests a founder effect based on a common ancient mutation in this population. We confirm linkage of the CNF locus to the same chromosomal region in seven non-Finnish CNF families without evidence of linkage disequilibrium. Our results show that the same gene seems to be affected in both Finnish and non-Finnish CNF populations. However, in the latter the mutation-carrying chromosomes descend from different ancestors without evidence of a founder effect.
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