Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report

Abstract

Background: Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineuraldeafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutation in the GJB2gene. Mutations in Argentinean patients have not been described.Case presentation: We studied a 2 year-old boy with bilateral congenital sensorineural deafness with dry skin over theentire body, hypotrichosis of the scalp, thin and light-blond hair. Analysis of the GJB2 gene nucleotide sequence revealedthe substitution of guanine-148 by adenine predicted to result in an Asp50Asn amino acid substitution.Conclusion: This is the first KID report in a patient from Argentina. This de novo mutation proved to be the cause ofkeratitis-ichthyosis-deafness syndrome (KID-syndrome) in the patient, and has implications in medical genetic practice