Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29

E R Wilcox; Q L Burton; S Naz; S Riazuddin; T N Smith; B Ploplis; I Belyantseva; T Ben-Yosef; N A Liburd; R J Morell; B Kachar; D K Wu; A J Griffith; S Riazuddin; T B Friedman

doi:10.1016/s0092-8674(01)00200-8

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29

Cell. 2001 Jan 12;104(1):165-72. doi: 10.1016/s0092-8674(01)00200-8.

Authors

E R Wilcox¹, Q L Burton, S Naz, S Riazuddin, T N Smith, B Ploplis, I Belyantseva, T Ben-Yosef, N A Liburd, R J Morell, B Kachar, D K Wu, A J Griffith, S Riazuddin, T B Friedman

Affiliation

¹ Laboratory of Molecular Genetics, 5 Research Court, NIDCD/NIH, Rockville, MD 20850, USA. wilcoxe@nidcd.nih.gov

PMID: 11163249
DOI: 10.1016/s0092-8674(01)00200-8

Abstract

Tight junctions in the cochlear duct are thought to compartmentalize endolymph and provide structural support for the auditory neuroepithelium. The claudin family of genes is known to express protein components of tight junctions in other tissues. The essential function of one of these claudins in the inner ear was established by identifying mutations in CLDN14 that cause nonsyndromic recessive deafness DFNB29 in two large consanguineous Pakistani families. In situ hybridization and immunofluorescence studies demonstrated mouse claudin-14 expression in the sensory epithelium of the organ of Corti.

Publication types

Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Blotting, Northern
Claudins
Consanguinity
Deafness / genetics*
Family Health*
Genes, Recessive
Genetic Linkage
Humans
Membrane Proteins / analysis
Membrane Proteins / genetics*
Molecular Sequence Data
Organ of Corti / chemistry*
Pedigree
Point Mutation*
RNA, Messenger / analysis
Sequence Homology, Amino Acid
Tight Junctions / chemistry*

Substances

Claudins
Membrane Proteins
RNA, Messenger
claudin 14

Associated data

GENBANK/AF314089
GENBANK/AF314090