Whole Exome Sequencing (WES) identifies Homozygous mutation in g.37429732G>A in GRHPR gene is responsible for early onset of nephrolithiasis in the population of West Bengal, India

Kidney stone disease (KSD) or nephrolithiasis (NL), is a serious clinical concern that gradually poses threat to global health and economy. The frequency of KSD is rapidly increasing and about 12% of the Indian population are suffering from this disease. In this scenario, we studied the incidence and age group stratification of KSD in the eastern part of India. Furthermore, patients with GRHPR mutation were highly predominant. Furthermore, real time quantitative PCR expression and protein expression through immunoblotting along with protein activity & computational analysis were carried out in patients with GRHPR mutation. Our findings revealed that the candidates of the early age group are prone to hyperoxaluria moreover a potent and frequent mutation in the GRHPR gene is widely present in this age group. Further, biochemical tests such as serum creatine, serum urea, serum and urinary calcium were carried out for the patients along with age matched controls. Moreover, the actual underlying cause of nephrolithiasis for lower age groups still remains unclear. The study revealed that mutations were more often found in GRHPR, AGXT, and HOGA1 genes in the study cohort.