Journal Article

Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis

Martin Konrad, Sophie Saunier, Laurence Heidet, Flora Silbermann, France Benessy, Joaquim Calado, Denis Le Paslier, Michel Broyer, Marie-Claire Gubler and Corinne Antignac

in Human Molecular Genetics

Volume 5, issue 3, pages 367-371
Published in print March 1996 | ISSN: 0964-6906
e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/5.3.367
Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis

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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.

Journal Article.  3583 words.  Illustrated.

Subjects: Genetics and Genomics

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