Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis.

  title={Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis.},
  author={Michael Konrad and Sophie Saunier and Laurence Heidet and Flora Silbermann and France Benessy and Joaquim Tomaz Calado and Denis Le Paslier and Michel Broyer and Marie Claire Gubler and Corinne Antignac},
  journal={Human molecular genetics},
  volume={5 3},
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… CONTINUE READING
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