Human Molecular Genetics, Vol 5, 367-371, Copyright © 1996 by Oxford University Press
M Konrad, S Saunier, L Heidet, F Silbermann, F Benessy, J Calado, D Le Paslier, M Broyer, MC Gubler and C Antignac
Juvenile nephronophthisis (NPH) is a genetically heterogeneous disorder
representing the most frequent inherited cause of chronic renal failure in
children. We recently assigned a gene (NPH1) to the 2q13 region which is
responsible for approximately 85% of cases. Cloning this region in a yeast
artificial chromosome contig revealed the presence of low copy repeats.
Large-scale rearrangements were detected in 80% of the patients belonging
to inbred or multiplex NPH1 families and in 65% of the sporadic cases.
Surprisingly, these rearrangements seem to be, in most cases, large
homozygous deletions of approximately 250 kb involving an 100 kb inverted
duplication. This suggests a common genetic disease-causing mechanism,
which could be responsible for the highest frequency of large
rearrangements reported in an autosomal recessive trait. Our findings are
also of major clinical interest, as they permit the diagnosis in the
majority of sporadic cases without the need for kidney biopsy.
ARTICLES
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis
INSERM U 423, Hopital Necker-Enfant Malades, Paris, France.
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