Abstract
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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Fuchshuber, A., Niaudef, P., Gribouval, O. et al. Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population. Pediatr Nephrol 10, 135–138 (1996). https://doi.org/10.1007/BF00862052
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DOI: https://doi.org/10.1007/BF00862052