Use of whole-exome sequencing to identify a novel ADCY10 mutation in a patient with nephrolithiasis.

Nephrolithiasis is a prevalent condition with high morbidity, and the incidence and prevalence of nephrolithiasis have been increasing worldwide. Although dozens of monogenic reason of nephrolithiasis have been identified, the fraction of the disease caused by single genes has not been determined. In this study, employing total exon sequencing technology, we investigated two patients in south-central China with primary nephrolithiasis and identified a novel ADCY10 mutation c.2186G > A (p.G729E) and a known ADCY10 mutation c.2182G > A (p.E728K). The results of our study suggest that ADCY10 plays an important role in nephrolithiasis.