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

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....

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Autores principales: Dalamón, Viviana Karina, Buonfiglio, Paula, Larralde, Margarita, Craig, Patricio, Lotersztein, Vanesa, Choate, Keith, Pallares, Norma, Diamante, Vicente, Elgoyhen, Ana Belén
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855445/
https://www.ncbi.nlm.nih.gov/pubmed/27141831
http://dx.doi.org/10.1186/s12881-016-0298-y
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author Dalamón, Viviana Karina
Buonfiglio, Paula
Larralde, Margarita
Craig, Patricio
Lotersztein, Vanesa
Choate, Keith
Pallares, Norma
Diamante, Vicente
Elgoyhen, Ana Belén
author_facet Dalamón, Viviana Karina
Buonfiglio, Paula
Larralde, Margarita
Craig, Patricio
Lotersztein, Vanesa
Choate, Keith
Pallares, Norma
Diamante, Vicente
Elgoyhen, Ana Belén
author_sort Dalamón, Viviana Karina
collection PubMed
description 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.
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spelling pubmed-48554452016-05-05 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 Med Genet Case Report 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. BioMed Central 2016-05-04 /pmc/articles/PMC4855445/ /pubmed/27141831 http://dx.doi.org/10.1186/s12881-016-0298-y Text en © Dalamón et al. 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Dalamón, Viviana Karina
Buonfiglio, Paula
Larralde, Margarita
Craig, Patricio
Lotersztein, Vanesa
Choate, Keith
Pallares, Norma
Diamante, Vicente
Elgoyhen, Ana Belén
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report
title Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report
title_full Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report
title_fullStr Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report
title_full_unstemmed Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report
title_short Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report
title_sort connexin 26 (gjb2) mutation in an argentinean patient with keratitis-ichthyosis-deafness (kid) syndrome: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855445/
https://www.ncbi.nlm.nih.gov/pubmed/27141831
http://dx.doi.org/10.1186/s12881-016-0298-y
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