title: 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 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor Torres"-(INGEBI), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Vuelta de Obligado 2490. (1428) Ciudad Autónoma de Buenos Aires, Buenos Aires, Argentina. vividalamon@gmail.com.
authors.forename: Viviana Karina
authors.initials: VK
authors.lastname: Dalamón
authors.affiliation: Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor Torres"-(INGEBI), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Vuelta de Obligado 2490. (1428) Ciudad Autónoma de Buenos Aires, Buenos Aires, Argentina.
authors.forename: Paula
authors.initials: P
authors.lastname: Buonfiglio
authors.affiliation: Servicio de Dermatología Pediátrica, Hospital Ramos Mejía, Ciudad Autonoma de Buenos Aires, Argentina.|Departamento de Dermatología, Hospital Alemán, Ciudad Autonoma de Buenos Aires, Argentina.
authors.forename: Margarita
authors.initials: M
authors.lastname: Larralde
authors.affiliation: Departamento de Química Biológica e Instituto de Química y Fisicoquímica Biológicas, Universidad de Buenos Aires, Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Ciudad Autonoma de Buenos Aires, Argentina.
authors.forename: Patricio
authors.initials: P
authors.lastname: Craig
authors.affiliation: Servicio de Genética, Hospital de Clínicas "José de San Martín", Ciudad Autonoma de Buenos Aires, Argentina.
authors.forename: Vanesa
authors.initials: V
authors.lastname: Lotersztein
authors.affiliation: Dermatology Yale University School of Medicine, New Haven, USA.
authors.forename: Keith
authors.initials: K
authors.lastname: Choate
authors.affiliation: Instituto Superior de Implantes Cocleares "Dr. Vicente Diamante", Ciudad Autonoma de Buenos Aires, Argentina.
authors.forename: Norma
authors.initials: N
authors.lastname: Pallares
authors.affiliation: Instituto Superior de Implantes Cocleares "Dr. Vicente Diamante", Ciudad Autonoma de Buenos Aires, Argentina.
authors.forename: Vicente
authors.initials: V
authors.lastname: Diamante
authors.affiliation: Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor Torres"-(INGEBI), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Vuelta de Obligado 2490. (1428) Ciudad Autónoma de Buenos Aires, Buenos Aires, Argentina.|Departamento de Farmacología, Facultad de Medicina, Universidad de Buenos Aires, Ciudad Autonoma de Buenos Aires, Argentina.
authors.forename: Ana Belén
authors.initials: AB
authors.lastname: Elgoyhen
mesh_terms: D019943:Amino Acid Substitution; D001118:Argentina; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007634:Keratitis / Q000235:genetics*; D008297:Male; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26
keywords: Connexin; Deafness; GJB2; KID syndrome; Mutations; p.Asp50Asn