A novel CLCN5 mutation in a Chinese boy with Dent’s disease

  • Ji L
  • Chen C
  • Wang J
 et al. 
  • 7


    Mendeley users who have this article in their library.
  • 2


    Citations of this article.


BACKGROUND: Dent's disease is a rare X-linked recessive hereditary disease caused by mutations in either the CLCN5 or OCRL1 genes. This disease is characterized by manifestations of proximal renal tubule dysfunction associated with low molecular weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. METHODS: We report a Chinese boy with Dent's disease, clinically diagnosed by LMWP and hypercalciuria. Genetic analysis was made of the CLCN5 and OCRL1 genes. Related studies were also reviewed. RESULTS: A splice site mutation IVS6, +2T>C of the CLCN5 gene was revealed in this case, and it was not reported previously. CONCLUSIONS: Clinical and genetic analysis is valuable for the diagnosis of Dent's disease. A novel mutation in the CLCN5 gene was identified in our patient.

Author-supplied keywords

  • CLCN5
  • Dent’s disease
  • gene mutation
  • hypercalciuria
  • proteinuria

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document


  • Li Na Ji

  • Chao Ying Chen

  • Jing Jing Wang

  • Li Cao

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free