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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.

This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.

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 report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.

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.