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This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.

This review discusses the role of connexin mutations in various human disorders, highlighting their impact on ectodermal epithelial phenotypes like hearing loss and skin abnormalities, but it presents no new clinical findings.

This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.

This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.

This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.