A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report

Jiajia Ni; Yaju Zhu; Fujun Lin; Wenbin Guan; Jing Jin; Yufeng Li; Guimei Guo

doi:10.3389/fped.2022.1043502

A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report

Front Pediatr. 2022 Nov 14:10:1043502. doi: 10.3389/fped.2022.1043502. eCollection 2022.

Authors

Jiajia Ni¹, Yaju Zhu¹, Fujun Lin², Wenbin Guan³, Jing Jin¹, Yufeng Li¹, Guimei Guo¹

Affiliations

¹ Department of Pediatric Nephrology, Rheumatology and Immunology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
² Department of Nephrology, Xin Hua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
³ Department of Pathology, Xin Hua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Abstract

Background: 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.

Case presentation: 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 CLCN5 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.

Conclusions: In this study, we have found a novel frameshift mutation (c. 1448delG) at exon 11 of the CLCN5 gene which leads to Dent disease 1, expanding the spectrum of CLCN5 mutations.

Keywords: CLCN5 gene mutation; Dent disease; X-link; low molecular weight proteinuria; renal tubule disorders.

Publication types

Case Reports