Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly.

ABSTRACT: Formation of claudin-10 based tight junctions (TJs) is paramount to paracellular Na⁺ transport in multiple epithelia. Sequence variants in CLDN10 have been linked to HELIX syndrome, a salt-losing tubulopathy with altered handling of divalent cations accompanied by dysfunctional salivary, sweat, and lacrimal glands. Here, we investigate molecular basis and phenotypic consequences of a newly identified homozygous CLDN10 variant that translates into a single amino acid substitution within the fourth transmembrane helix of claudin-10. In addition to hypohidrosis (H), electrolyte (E) imbalance with impaired urine concentrating ability, and hypolacrimia (L), phenotypic findings include altered salivary electrolyte composition and amelogenesis imperfecta but neither ichth

SUBMITTER: Sewerin S 

PROVIDER: S-EPMC9293720 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature