Homo sapiens Phenotype or Genotype

NPHP1 is the most prevalent genetic cause of juvenile nephronophthisis (NPHP). In our previous study, NPHP1 homozygous point mutations in three cases from two non-consanguineous pedigrees were indicated by Sanger sequencing; however, mutant sites were detected in only one parent of each respective pedigree. To investigate whether other disease-causing mutations were harbored in these two pedigrees, we applied targeted exome sequencing. A whole heterozygous deletion of NPHP1 (1-20 exons) were detected in each proband of the two pedigrees, which inherited from one respective parent, in addition to the previously detected point mutations. The results were further confirmed by quantitative PCR.