biostudies-literatureUnknown10Ni J<h4>Background</h4>Dent disease is a group of inherited X-linked recessive renal tubular disorders. This group of disorders is characterized by low molecular weight proteinuria (LMWP), nephrocalcinosis, hypercalciuria and renal failure.<h4>Case presentation</h4>Here we report one 11-year-old Chinese boy (proband) and one 13-year-old Chinese boy who was proband's cousin, both presented with massive proteinuria. Further laboratory examinations revealed a lack of nephrocalcinosis, nor any other signs of tubular dysfunction, but only LMWP and hypercalciuria. There was no abnormality in growth, renal function or mineral density of the bones. A novel deletion (c.1448delG) in the <i>CLCN5</i> gene was identified, resulting in a frame shift mutation (p.Gly483fs). The proband's and his cousin's mothers were found to be the carrier of this mutation.<h4>Conclusions</h4>In this study, we have found a novel frameshift mutation (c. 1448delG) at exon 11 of the <i>CLCN5</i> gene which leads to Dent disease 1, expanding the spectrum of <i>CLCN5</i> mutations.Frontiers in pediatrics1043502https://www.ebi.ac.uk/biostudies/studies/S-EPMC9702988biostudies-literatureA novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report.PMC9702988Ni JLi YGuan WZhu YLin FGuo GJin JfalseA novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report.<h4>Background</h4>Dent disease is a group of inherited X-linked recessive renal tubular disorders. This group of disorders is characterized by low molecular weight proteinuria (LMWP), nephrocalcinosis, hypercalciuria and renal failure.<h4>Case presentation</h4>Here we report one 11-year-old Chinese boy (proband) and one 13-year-old Chinese boy who was proband's cousin, both presented with massive proteinuria. Further laboratory examinations revealed a lack of nephrocalcinosis, nor any other signs of tubular dysfunction, but only LMWP and hypercalciuria. There was no abnormality in growth, renal function or mineral density of the bones. A novel deletion (c.1448delG) in the <i>CLCN5</i> gene was identified, resulting in a frame shift mutation (p.Gly483fs). The proband's and his cousin's mothers were found to be the carrier of this mutation.<h4>Conclusions</h4>In this study, we have found a novel frameshift mutation (c. 1448delG) at exon 11 of the <i>CLCN5</i> gene which leads to Dent disease 1, expanding the spectrum of <i>CLCN5</i> mutations.2022-01-01T00:00:00Z20222025-04-19T22:47:05.05Z2025-04-19T22:47:05.05ZS-EPMC97029883645235910.3389/fped.2022.1043502