{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T11:08:32Z","timestamp":1778843312944,"version":"3.51.4"},"reference-count":26,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T00:00:00Z","timestamp":1775433600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100001809","name":"the National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82300787"],"award-info":[{"award-number":["82300787"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"the National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82270730"],"award-info":[{"award-number":["82270730"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["DNA and Cell Biology"],"published-print":{"date-parts":[[2026,6,1]]},"abstract":"<jats:p>\n                    Dent disease 1, an X-linked recessive proximal tubulopathy most commonly caused by\n                    <jats:italic toggle=\"yes\">CLCN5<\/jats:italic>\n                    variants, often presents with heterogeneous and nonspecific phenotypes that hinder clinical diagnosis in the absence of molecular data. We investigated a Chinese kindred with suspected hereditary renal disease using whole-exome sequencing and comprehensive\n                    <jats:italic toggle=\"yes\">in silico<\/jats:italic>\n                    analyses and identified a novel frameshift variant in\n                    <jats:italic toggle=\"yes\">CLCN5<\/jats:italic>\n                    (NM_001127899: c.2359dupG\/p.R788Afs*24). Segregation analysis showed the proband to be hemizygous, with his mother and daughter as heterozygous carriers. Pathogenicity prediction, domain mapping against published\n                    <jats:italic toggle=\"yes\">CLCN5<\/jats:italic>\n                    variants, and literature review indicate that this variant lies within a functionally critical, variant-hotspot region of the protein where truncating variants correlate with classic Dent disease 1 phenotypes. Molecular docking and structural modeling further predict destabilization of the H\n                    <jats:sup>+<\/jats:sup>\n                    \/Cl\n                    <jats:sup>\u2212<\/jats:sup>\n                    exchange transporter 5 (CLC-5) dimer and reduced adenosine triphosphate (ATP)\/adenosine diphosphate (ADP) binding affinity attributable to the frameshift, providing mechanistic plausibility for impaired channel function. Collectively, genetic, bioinformatic, and structural evidence support the p.R788Afs24 mutant as a likely pathogenic allele underlying the proband\u2019s renal phenotype, expanding the variant spectrum of\n                    <jats:italic toggle=\"yes\">CLCN5<\/jats:italic>\n                    and underscoring the necessity of genetic testing for accurate diagnosis and management of Dent disease 1.\n                  <\/jats:p>","DOI":"10.1177\/10445498261441112","type":"journal-article","created":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T10:30:27Z","timestamp":1775471427000},"page":"273-280","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Dent Disease 1 Associated with a Rare Novel Renal Chloride Channel 5 Variant in a Chinese Family"],"prefix":"10.1177","volume":"45","author":[{"given":"Si-Yuan","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Nephrology, FuRong Laboratory, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Huang","sequence":"additional","affiliation":[{"name":"Hunan Key Laboratory of Organ Fibrosis, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zi-Jie","family":"Yu","sequence":"additional","affiliation":[{"name":"Xiangya School of Medicine, Central South University, Changsha, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang-Liang","family":"Fan","sequence":"additional","affiliation":[{"name":"Hunan Key Laboratory of Organ Fibrosis, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie-Yuan","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Nephrology, FuRong Laboratory, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Nephrology, FuRong Laboratory, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, FuRong Laboratory, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Ordos Central Hospital, Ordos, Inner Mongolia, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6388-5040","authenticated-orcid":false,"given":"Yu-Xing","family":"Liu","sequence":"additional","affiliation":[{"name":"Central Laboratory, The Second Affiliated Hospital of Guilin Medical University, Guilin, 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