INGEBI   02650
INSTITUTO DE INVESTIGACIONES EN INGENIERIA GENETICA Y BIOLOGIA MOLECULAR "DR. HECTOR N TORRES"
Unidad Ejecutora - UE
artículos
Título:
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report
Autor/es:
DALAMÓN V; BUONFIGLIO P; LARRALDE M; CRAIG P; LOTERSZTEIN V; CHOATE K; PALLARES N; DIAMANTE V; ELGOYHEN AB
Revista:
BMC MEDICAL GENETICS
Editorial:
BIOMED CENTRAL LTD
Referencias:
Lugar: Londres; Año: 2016 vol. 17 p. 37 - 45
ISSN:
1471-2350
Resumen:
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.Keywords: GJB2, Mutations, KID syndrome, Connexin, Deafness, p.Asp50Asn