Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

ABSTRACT: Familial juvenile nephronophthisis is an autosomal recessive, genetically heterogeneous kidney disorder representing the most frequent inherited cause of chronic renal failure in children. A gene, NPHP1, responsible for approximately 85% of the purely renal form of nephronophthisis, has been mapped to 2q13 and characterized. The major NPHP1 gene defect is a large homozygous deletion found in approximately 80% of the patients. In this study, by large-scale genomic sequencing and pulsed-field gel electrophoresis analysis, we characterized the complex organization of the NPHP1 locus and determined the mutational mechanism that results in the large deletion observed in most patients. We showed that the deletion is 290 kb in size and that NPHP1 is flanked by two large inverted repeats of approx

SUBMITTER: Saunier S 

PROVIDER: S-EPMC1288163 | biostudies-literature | 2000 Mar

REPOSITORIES: biostudies-literature