ADAMTS9 and Joubert syndrome: In this study, homozygosity mapping and whole-exome sequencing identified two cases with homozygous mutations in ADAMTS9. A novel homozygous frameshift truncating mutation (c.4575_4576del; p.Gln1525Hisfs*60) in ADAMTS9 was identified in an European patient with NPHP and early-onset end-stage renal disease (ESRD) with the Joubert syndrome phenotype, including symptoms of vermis aplasia and corpus callosum hypoplasia.