A Novel Mutation in the Connexin 26 Gene (GJB2) in a Child with Clinical and Histological Features of Keratitis-Ichthyosis-Deafness (KID) Syndrome

This study reported a novel mutation in the connexin 26 gene (GJB2) in a premature male neonate with keratitis-ichthyosis-deafness (KID) syndrome. The child exhibited symptoms such as hearing impairment, ichthyosiform erythroderma, palmoplantar keratoderma, alopecia, and a thick vernix caseosa-like covering of the scalp. Histological analysis confirmed features typical of KID syndrome. A new heterozygous de novo mutation, c.263C>T, resulting in an alanine to valine substitution at position 88 (p.Ala88Val), was identified. Despite treatment with acitretin, the child developed severe complications, including hydrocephalus, septicaemia, and respiratory failure, leading to death at 46 weeks of gestational age. This finding expanded the genetic understanding of KID syndrome.