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

Viviana Karina Dalamón, Paula Buonfiglio, Margarita Larralde, Patricio Craig, Vanesa Lotersztein, Keith Choate, Norma Pallares, Vicente Diamante, Ana Belén Elgoyhen

Research output: Contribution to journalArticlepeer-review

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. 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.

Original languageEnglish (US)
Article number37
JournalBMC Medical Genetics
Volume17
Issue number1
DOIs
StatePublished - May 4 2016
Externally publishedYes

Keywords

  • Connexin
  • Deafness
  • GJB2
  • KID syndrome
  • Mutations
  • P.Asp50Asn

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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