A Novel Claudinopathy Based on Claudin-10 Mutations

International Journal of Molecular Sciences

Susanne Milatz¹ 

[1] Institute of Physiology, Kiel University, Christian-Albrechts-Platz 4, 24118 Kiel, Germany;

关键词: tight junction;    paracellular permeability;    paracellular sodium transport;    thick ascending limb;    nephropathy;    helix syndrome;    hypokalemia;    hypermagnesemia;    anhidrosis;    gland dysfunction;   

DOI  :  10.3390/ijms20215396

来源: DOAJ

【 摘 要 】

Claudins are key components of the tight junction, sealing the paracellular cleft or composing size-, charge- and water-selective paracellular channels. Claudin-10 occurs in two major isoforms, claudin-10a and claudin-10b, which constitute paracellular anion or cation channels, respectively. For several years after the discovery of claudin-10, its functional relevance in men has remained elusive. Within the past two years, several studies appeared, describing patients with different pathogenic variants of the CLDN10 gene. Patients presented with dysfunction of kidney, exocrine glands and skin. This review summarizes and compares the recently published studies reporting on a novel autosomal-recessive disorder based on claudin-10 mutations.

【 授权许可】

Unknown