{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10"],"submitter":["Ni J"],"pubmed_abstract":["<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."],"journal":["Frontiers in pediatrics"],"pagination":["1043502"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9702988"],"repository":["biostudies-literature"],"pubmed_title":["A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report."],"pmcid":["PMC9702988"],"pubmed_authors":["Ni J","Li Y","Guan W","Zhu Y","Lin F","Guo G","Jin J"],"additional_accession":[]},"is_claimable":false,"name":"A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report.","description":"<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.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2025-04-19T22:47:05.05Z","creation":"2025-04-19T22:47:05.05Z"},"accession":"S-EPMC9702988","cross_references":{"pubmed":["36452359"],"doi":["10.3389/fped.2022.1043502"]}}