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

Autores
Dalamon, Viviana Karina; Buonfiglio, Paula; Larralde, Margarita; Craig, Patricio Oliver; Lotersztein, Vanesa; Choate, Keith; Pallares, Norma; Diamante, Vicente; Elgoyhen, Ana Belen
Año de publicación
2016
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
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
Fil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Buonfiglio, Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Larralde, Margarita. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Hospital Alemán; Argentina
Fil: Craig, Patricio Oliver. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas "Prof. Alejandro C. Paladini". Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Instituto de Química y Físico-Química Biológicas; Argentina
Fil: Lotersztein, Vanesa. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Choate, Keith. University of Yale; Estados Unidos
Fil: Pallares, Norma. Instituto Superior de Implantes Cocleares “Dr. Vicente Diamante”; Argentina
Fil: Diamante, Vicente. Instituto Superior de Implantes Cocleares “Dr. Vicente Diamante”; Argentina
Fil: Elgoyhen, Ana Belen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Materia
dermatitis
hipoacusia
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/44251
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/44251
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case reportDalamon, Viviana KarinaBuonfiglio, PaulaLarralde, MargaritaCraig, Patricio OliverLotersztein, VanesaChoate, KeithPallares, NormaDiamante, VicenteElgoyhen, Ana Belendermatitishipoacusiahttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Background: 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 practiceFil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; ArgentinaFil: Buonfiglio, Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; ArgentinaFil: Larralde, Margarita. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Hospital Alemán; ArgentinaFil: Craig, Patricio Oliver. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas "Prof. Alejandro C. Paladini". Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Instituto de Química y Físico-Química Biológicas; ArgentinaFil: Lotersztein, Vanesa. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Choate, Keith. University of Yale; Estados UnidosFil: Pallares, Norma. Instituto Superior de Implantes Cocleares “Dr. Vicente Diamante”; ArgentinaFil: Diamante, Vicente. Instituto Superior de Implantes Cocleares “Dr. Vicente Diamante”; ArgentinaFil: Elgoyhen, Ana Belen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; ArgentinaBioMed Central2016-05info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/44251Dalamon, Viviana Karina; Buonfiglio, Paula; Larralde, Margarita; Craig, Patricio Oliver; Lotersztein, Vanesa; et al.; Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report; BioMed Central; BMC Medical Genetics; 17; 5-2016; 37-451471-2350CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1186/s12881-016-0298-yinfo:eu-repo/semantics/altIdentifier/url/https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-016-0298-yinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:27:36Zoai:ri.conicet.gov.ar:11336/44251instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:27:36.575CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv 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
spellingShingle Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report
Dalamon, Viviana Karina
dermatitis
hipoacusia
title_short 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_sort Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report
dc.creator.none.fl_str_mv Dalamon, Viviana Karina
Buonfiglio, Paula
Larralde, Margarita
Craig, Patricio Oliver
Lotersztein, Vanesa
Choate, Keith
Pallares, Norma
Diamante, Vicente
Elgoyhen, Ana Belen
author Dalamon, Viviana Karina
author_facet Dalamon, Viviana Karina
Buonfiglio, Paula
Larralde, Margarita
Craig, Patricio Oliver
Lotersztein, Vanesa
Choate, Keith
Pallares, Norma
Diamante, Vicente
Elgoyhen, Ana Belen
author_role author
author2 Buonfiglio, Paula
Larralde, Margarita
Craig, Patricio Oliver
Lotersztein, Vanesa
Choate, Keith
Pallares, Norma
Diamante, Vicente
Elgoyhen, Ana Belen
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv dermatitis
hipoacusia
topic dermatitis
hipoacusia
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv 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
Fil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Buonfiglio, Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Larralde, Margarita. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Hospital Alemán; Argentina
Fil: Craig, Patricio Oliver. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas "Prof. Alejandro C. Paladini". Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Instituto de Química y Físico-Química Biológicas; Argentina
Fil: Lotersztein, Vanesa. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Choate, Keith. University of Yale; Estados Unidos
Fil: Pallares, Norma. Instituto Superior de Implantes Cocleares “Dr. Vicente Diamante”; Argentina
Fil: Diamante, Vicente. Instituto Superior de Implantes Cocleares “Dr. Vicente Diamante”; Argentina
Fil: Elgoyhen, Ana Belen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
description 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
publishDate 2016
dc.date.none.fl_str_mv 2016-05
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/44251
Dalamon, Viviana Karina; Buonfiglio, Paula; Larralde, Margarita; Craig, Patricio Oliver; Lotersztein, Vanesa; et al.; Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report; BioMed Central; BMC Medical Genetics; 17; 5-2016; 37-45
1471-2350
CONICET Digital
CONICET
url http://hdl.handle.net/11336/44251
identifier_str_mv Dalamon, Viviana Karina; Buonfiglio, Paula; Larralde, Margarita; Craig, Patricio Oliver; Lotersztein, Vanesa; et al.; Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report; BioMed Central; BMC Medical Genetics; 17; 5-2016; 37-45
1471-2350
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1186/s12881-016-0298-y
info:eu-repo/semantics/altIdentifier/url/https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-016-0298-y
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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