Document Detail

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.
MedLine Citation:
PMID:  17033971     Owner:  NLM     Status:  MEDLINE    
Claudins are major components of tight junctions and contribute to the epithelial-barrier function by restricting free diffusion of solutes through the paracellular pathway. We have mapped a new locus for recessive renal magnesium loss on chromosome 1p34.2 and have identified mutations in CLDN19, a member of the claudin multigene family, in patients affected by hypomagnesemia, renal failure, and severe ocular abnormalities. CLDN19 encodes the tight-junction protein claudin-19, and we demonstrate high expression of CLDN19 in renal tubules and the retina. The identified mutations interfere severely with either cell-membrane trafficking or the assembly of the claudin-19 protein. The identification of CLDN19 mutations in patients with chronic renal failure and severe visual impairment supports the fundamental role of claudin-19 for normal renal tubular function and undisturbed organization and development of the retina.
Martin Konrad; Andre Schaller; Dominik Seelow; Amit V Pandey; Siegfried Waldegger; Annegret Lesslauer; Helga Vitzthum; Yoshiro Suzuki; John M Luk; Christian Becker; Karl P Schlingmann; Marcel Schmid; Juan Rodriguez-Soriano; Gema Ariceta; Francisco Cano; Ricardo Enriquez; Harald Juppner; Sevcan A Bakkaloglu; Matthias A Hediger; Sabina Gallati; Stephan C F Neuhauss; Peter Nurnberg; Stefanie Weber
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-09-19
Journal Detail:
Title:  American journal of human genetics     Volume:  79     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2006 Nov 
Date Detail:
Created Date:  2006-10-11     Completed Date:  2006-12-04     Revised Date:  2011-11-23    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  949-57     Citation Subset:  IM    
University Children's Hospital, Inselspital, Bern, Switzerland.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/BC115827; OMIM/248250; RefSeq/NM_053241
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MeSH Terms
Cell Line
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 1 / genetics
Eye Abnormalities / genetics*
Kidney / metabolism
Kidney Failure, Chronic / genetics*
Magnesium Deficiency / genetics*
Membrane Proteins / chemistry,  genetics*,  metabolism
Middle Aged
Models, Molecular
Molecular Sequence Data
Recombinant Proteins / genetics,  metabolism
Tight Junctions / genetics*
Reg. No./Substance:
0/CLDN19 protein, human; 0/Cldn19 protein, mouse; 0/Membrane Proteins; 0/Recombinant Proteins; 0/claudin 16

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