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

DALAMÓN, VIVIANA KARINA; BUONFIGLIO, PAULA; LARRALDE, MARGARITA; CRAIG, PATRICIO; LOTERSZTEIN, VANESA; CHOATE, KEITH; PALLARES, NORMA; DIAMANTE, VICENTE; ELGOYHEN, ANA BELÉN

BMC MEDICAL GENETICS

BIOMED CENTRAL LTD

Año: 2016 vol. 17

1471-2350

Background: Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutation in the GJB2 gene. 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 the entire body, hypotrichosis of the scalp, thin and light-blond hair. Analysis of the GJB2 gene nucleotide sequence revealed the 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 of keratitis-ichthyosis-deafness syndrome (KID-syndrome) in the patient, and has implications in medical genetic practice.