Snoek et al. (2018) sought to investigate the prevalence of NPH in adult-onset ESRD, through assessment of the CNVs in the NPHP1 gene (>90 kb) because a homozygous full gene deletion is a prominent cause of NPH. These investigators assessed 5,606 adult renal transplant recipients, 26 of whom showed evidence of the homozygous NPHP1 deletion, compared to none of the 3,311 controls. Despite this, only 12% of the patients with the homozygous NPHP1 gene deletion were clinically diagnosed with NPH. Here, NPHP1 is linked to normal pressure hydrocephalus.