title: Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.
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.
authors.affiliation: Laboratory of Molecular Genetics, 5 Research Court, NIDCD/NIH, Rockville, MD 20850, USA. wilcoxe@nidcd.nih.gov
authors.forename: E R
authors.initials: ER
authors.lastname: Wilcox
authors.forename: Q L
authors.initials: QL
authors.lastname: Burton
authors.forename: S
authors.initials: S
authors.lastname: Naz
authors.forename: S
authors.initials: S
authors.lastname: Riazuddin
authors.forename: T N
authors.initials: TN
authors.lastname: Smith
authors.forename: B
authors.initials: B
authors.lastname: Ploplis
authors.forename: I
authors.initials: I
authors.lastname: Belyantseva
authors.forename: T
authors.initials: T
authors.lastname: Ben-Yosef
authors.forename: N A
authors.initials: NA
authors.lastname: Liburd
authors.forename: R J
authors.initials: RJ
authors.lastname: Morell
authors.forename: B
authors.initials: B
authors.lastname: Kachar
authors.forename: D K
authors.initials: DK
authors.lastname: Wu
authors.forename: A J
authors.initials: AJ
authors.lastname: Griffith
authors.forename: S
authors.initials: S
authors.lastname: Riazuddin
authors.forename: T B
authors.initials: TB
authors.lastname: Friedman
mesh_terms: D015152:Blotting, Northern; D057167:Claudins; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D005192:Family Health; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008565:Membrane Proteins / Q000032:analysis / Q000235:genetics*; D008969:Molecular Sequence Data; D009925:Organ of Corti / Q000737:chemistry*; D010375:Pedigree; D017354:Point Mutation; D012333:RNA, Messenger / Q000032:analysis; D017386:Sequence Homology, Amino Acid; D019108:Tight Junctions / Q000737:chemistry*
chemical_list: D057167:Claudins; D008565:Membrane Proteins; D012333:RNA, Messenger; C422064:claudin 14