1. Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.
- Author
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Dalamón VK, Buonfiglio P, Larralde M, Craig P, Lotersztein V, Choate K, Pallares N, Diamante V, and Elgoyhen AB
- Subjects
- Argentina, Child, Preschool, Connexin 26, Genetic Predisposition to Disease, Humans, Male, Amino Acid Substitution, Connexins genetics, Keratitis genetics, Sequence Analysis, DNA methods
- 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.
- Published
- 2016
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