GJB2 and GJB6 genetic variant curation in a non-syndromic hearing loss cohort from argentina

Autores
Buonfiglio, Paula Inés; Bruque, Carlos David; Menazzi, S.; Francipane, S.; Lotersztein, Vanesa; Elgoyhen, Ana Belen; Dalamon, Viviana Karina
Año de publicación
2021
Idioma
inglés
Tipo de recurso
documento de conferencia
Estado
versión publicada
Descripción
Hereditary hearing impairment affects 1-500 newborn children. It is characterized by the large amount of genes involved (more than 100) and its phenotype heterogeneity. Despite the wide genetic variety of hearing impairment, the most commonly mutated genes in severe to profound autosomal recessive non-syndromic hearing loss are GJB2 and GJB6, accounting for nearly 50% of the cases in most populations around the Mediterranean Sea. Molecular diagnosis enables proper genetic counseling and medical prognosis to patients. Therefore, correct interpretation of the phenotypic consequences of genetic variants is crucial in genetic diagnosis, since discrepancies in sequence variant interpretation and classification has been reported to lead to serious impact in patient health maintenance.In this study we aimed to identify the genetic causes of hearing loss and performed a manual genetic variant curation following the American College of Medical Genetics and Genomics/Association for Molecular Pathology ACMG/AMP standards and hearing-loss-gene-specific criteria of the ClinGen Hearing Loss Expert Panel.A total of 600 patients were studied for genetic variants in GJB2 and GJB6 genes by Sanger Sequencing technique and Multiplex Gap-PCR, respectively.Overall, 48 different sequence variants were detected in our cohort of patients, being the c.35delG the most common causative variant identified. Besides, more than 50% of sequence variants were reclassified from their previous categorization in ClinVar after careful manual analysis. These results provide an accurately analysed and interpreted set of variants to be taken into account by clinicians and the scientific community, and hence, aid the precise genetic counseling to patients.
Fil: Buonfiglio, Paula Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Bruque, Carlos David. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Menazzi, S.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Francipane, S.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Lotersztein, Vanesa. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; 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. Universidad de Buenos Aires. Facultad de Medicina. Cátedra de Farmacología. 3º Cátedra de Farmacología; Argentina
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
LXVI Reunión Anual de la Sociedad Argentina de Investigación Clínica; LXIX Reunión Anual de la Sociedad Argentina de Inmunología; LIII Reunión Anual de la Asociación Argentina de Farmacología Experimental y XI Reunión Anual de la Asociación Argentina de Nanomedicinas
Ciudad Autónoma de Buenos Aires
Argentina
Sociedad Argentina de Investigación Clínica
Sociedad Argentina de Inmunología
Asociación Argentina de Farmacología Experimental
Asociación Argentina de Nanomedicinas
Materia
GJB2 GENE
GJB5 GENE
HEARING LOSS
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/202023
Acceder
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network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling GJB2 and GJB6 genetic variant curation in a non-syndromic hearing loss cohort from argentinaBuonfiglio, Paula InésBruque, Carlos DavidMenazzi, S.Francipane, S.Lotersztein, VanesaElgoyhen, Ana BelenDalamon, Viviana KarinaGJB2 GENEGJB5 GENEHEARING LOSShttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Hereditary hearing impairment affects 1-500 newborn children. It is characterized by the large amount of genes involved (more than 100) and its phenotype heterogeneity. Despite the wide genetic variety of hearing impairment, the most commonly mutated genes in severe to profound autosomal recessive non-syndromic hearing loss are GJB2 and GJB6, accounting for nearly 50% of the cases in most populations around the Mediterranean Sea. Molecular diagnosis enables proper genetic counseling and medical prognosis to patients. Therefore, correct interpretation of the phenotypic consequences of genetic variants is crucial in genetic diagnosis, since discrepancies in sequence variant interpretation and classification has been reported to lead to serious impact in patient health maintenance.In this study we aimed to identify the genetic causes of hearing loss and performed a manual genetic variant curation following the American College of Medical Genetics and Genomics/Association for Molecular Pathology ACMG/AMP standards and hearing-loss-gene-specific criteria of the ClinGen Hearing Loss Expert Panel.A total of 600 patients were studied for genetic variants in GJB2 and GJB6 genes by Sanger Sequencing technique and Multiplex Gap-PCR, respectively.Overall, 48 different sequence variants were detected in our cohort of patients, being the c.35delG the most common causative variant identified. Besides, more than 50% of sequence variants were reclassified from their previous categorization in ClinVar after careful manual analysis. These results provide an accurately analysed and interpreted set of variants to be taken into account by clinicians and the scientific community, and hence, aid the precise genetic counseling to patients.Fil: Buonfiglio, Paula Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; ArgentinaFil: Bruque, Carlos David. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Menazzi, S.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Francipane, S.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Lotersztein, Vanesa. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; ArgentinaFil: Elgoyhen, Ana Belen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Cátedra de Farmacología. 3º Cátedra de Farmacología; ArgentinaFil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; ArgentinaLXVI Reunión Anual de la Sociedad Argentina de Investigación Clínica; LXIX Reunión Anual de la Sociedad Argentina de Inmunología; LIII Reunión Anual de la Asociación Argentina de Farmacología Experimental y XI Reunión Anual de la Asociación Argentina de NanomedicinasCiudad Autónoma de Buenos AiresArgentinaSociedad Argentina de Investigación ClínicaSociedad Argentina de InmunologíaAsociación Argentina de Farmacología ExperimentalAsociación Argentina de NanomedicinasFundación Revista Medicina2021info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/conferenceObjectReuniónJournalhttp://purl.org/coar/resource_type/c_5794info:ar-repo/semantics/documentoDeConferenciaapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/202023GJB2 and GJB6 genetic variant curation in a non-syndromic hearing loss cohort from argentina; LXVI Reunión Anual de la Sociedad Argentina de Investigación Clínica; LXIX Reunión Anual de la Sociedad Argentina de Inmunología; LIII Reunión Anual de la Asociación Argentina de Farmacología Experimental y XI Reunión Anual de la Asociación Argentina de Nanomedicinas; Ciudad Autónoma de Buenos Aires; Argentina; 2021; 115-1150025-76801669-9106CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://medicinabuenosaires.com/revistas/vol81-21/s3/Mv81s3.pdfNacionalinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:11:17Zoai:ri.conicet.gov.ar:11336/202023instacron: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 10:11:17.793CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv GJB2 and GJB6 genetic variant curation in a non-syndromic hearing loss cohort from argentina
title GJB2 and GJB6 genetic variant curation in a non-syndromic hearing loss cohort from argentina
spellingShingle GJB2 and GJB6 genetic variant curation in a non-syndromic hearing loss cohort from argentina
Buonfiglio, Paula Inés
GJB2 GENE
GJB5 GENE
HEARING LOSS
title_short GJB2 and GJB6 genetic variant curation in a non-syndromic hearing loss cohort from argentina
title_full GJB2 and GJB6 genetic variant curation in a non-syndromic hearing loss cohort from argentina
title_fullStr GJB2 and GJB6 genetic variant curation in a non-syndromic hearing loss cohort from argentina
title_full_unstemmed GJB2 and GJB6 genetic variant curation in a non-syndromic hearing loss cohort from argentina
title_sort GJB2 and GJB6 genetic variant curation in a non-syndromic hearing loss cohort from argentina
dc.creator.none.fl_str_mv Buonfiglio, Paula Inés
Bruque, Carlos David
Menazzi, S.
Francipane, S.
Lotersztein, Vanesa
Elgoyhen, Ana Belen
Dalamon, Viviana Karina
author Buonfiglio, Paula Inés
author_facet Buonfiglio, Paula Inés
Bruque, Carlos David
Menazzi, S.
Francipane, S.
Lotersztein, Vanesa
Elgoyhen, Ana Belen
Dalamon, Viviana Karina
author_role author
author2 Bruque, Carlos David
Menazzi, S.
Francipane, S.
Lotersztein, Vanesa
Elgoyhen, Ana Belen
Dalamon, Viviana Karina
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv GJB2 GENE
GJB5 GENE
HEARING LOSS
topic GJB2 GENE
GJB5 GENE
HEARING LOSS
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Hereditary hearing impairment affects 1-500 newborn children. It is characterized by the large amount of genes involved (more than 100) and its phenotype heterogeneity. Despite the wide genetic variety of hearing impairment, the most commonly mutated genes in severe to profound autosomal recessive non-syndromic hearing loss are GJB2 and GJB6, accounting for nearly 50% of the cases in most populations around the Mediterranean Sea. Molecular diagnosis enables proper genetic counseling and medical prognosis to patients. Therefore, correct interpretation of the phenotypic consequences of genetic variants is crucial in genetic diagnosis, since discrepancies in sequence variant interpretation and classification has been reported to lead to serious impact in patient health maintenance.In this study we aimed to identify the genetic causes of hearing loss and performed a manual genetic variant curation following the American College of Medical Genetics and Genomics/Association for Molecular Pathology ACMG/AMP standards and hearing-loss-gene-specific criteria of the ClinGen Hearing Loss Expert Panel.A total of 600 patients were studied for genetic variants in GJB2 and GJB6 genes by Sanger Sequencing technique and Multiplex Gap-PCR, respectively.Overall, 48 different sequence variants were detected in our cohort of patients, being the c.35delG the most common causative variant identified. Besides, more than 50% of sequence variants were reclassified from their previous categorization in ClinVar after careful manual analysis. These results provide an accurately analysed and interpreted set of variants to be taken into account by clinicians and the scientific community, and hence, aid the precise genetic counseling to patients.
Fil: Buonfiglio, Paula Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Bruque, Carlos David. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Menazzi, S.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Francipane, S.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Lotersztein, Vanesa. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; 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. Universidad de Buenos Aires. Facultad de Medicina. Cátedra de Farmacología. 3º Cátedra de Farmacología; Argentina
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
LXVI Reunión Anual de la Sociedad Argentina de Investigación Clínica; LXIX Reunión Anual de la Sociedad Argentina de Inmunología; LIII Reunión Anual de la Asociación Argentina de Farmacología Experimental y XI Reunión Anual de la Asociación Argentina de Nanomedicinas
Ciudad Autónoma de Buenos Aires
Argentina
Sociedad Argentina de Investigación Clínica
Sociedad Argentina de Inmunología
Asociación Argentina de Farmacología Experimental
Asociación Argentina de Nanomedicinas
description Hereditary hearing impairment affects 1-500 newborn children. It is characterized by the large amount of genes involved (more than 100) and its phenotype heterogeneity. Despite the wide genetic variety of hearing impairment, the most commonly mutated genes in severe to profound autosomal recessive non-syndromic hearing loss are GJB2 and GJB6, accounting for nearly 50% of the cases in most populations around the Mediterranean Sea. Molecular diagnosis enables proper genetic counseling and medical prognosis to patients. Therefore, correct interpretation of the phenotypic consequences of genetic variants is crucial in genetic diagnosis, since discrepancies in sequence variant interpretation and classification has been reported to lead to serious impact in patient health maintenance.In this study we aimed to identify the genetic causes of hearing loss and performed a manual genetic variant curation following the American College of Medical Genetics and Genomics/Association for Molecular Pathology ACMG/AMP standards and hearing-loss-gene-specific criteria of the ClinGen Hearing Loss Expert Panel.A total of 600 patients were studied for genetic variants in GJB2 and GJB6 genes by Sanger Sequencing technique and Multiplex Gap-PCR, respectively.Overall, 48 different sequence variants were detected in our cohort of patients, being the c.35delG the most common causative variant identified. Besides, more than 50% of sequence variants were reclassified from their previous categorization in ClinVar after careful manual analysis. These results provide an accurately analysed and interpreted set of variants to be taken into account by clinicians and the scientific community, and hence, aid the precise genetic counseling to patients.
publishDate 2021
dc.date.none.fl_str_mv 2021
dc.type.none.fl_str_mv info:eu-repo/semantics/publishedVersion
info:eu-repo/semantics/conferenceObject
Reunión
Journal
http://purl.org/coar/resource_type/c_5794
info:ar-repo/semantics/documentoDeConferencia
status_str publishedVersion
format conferenceObject
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/202023
GJB2 and GJB6 genetic variant curation in a non-syndromic hearing loss cohort from argentina; LXVI Reunión Anual de la Sociedad Argentina de Investigación Clínica; LXIX Reunión Anual de la Sociedad Argentina de Inmunología; LIII Reunión Anual de la Asociación Argentina de Farmacología Experimental y XI Reunión Anual de la Asociación Argentina de Nanomedicinas; Ciudad Autónoma de Buenos Aires; Argentina; 2021; 115-115
0025-7680
1669-9106
CONICET Digital
CONICET
url http://hdl.handle.net/11336/202023
identifier_str_mv GJB2 and GJB6 genetic variant curation in a non-syndromic hearing loss cohort from argentina; LXVI Reunión Anual de la Sociedad Argentina de Investigación Clínica; LXIX Reunión Anual de la Sociedad Argentina de Inmunología; LIII Reunión Anual de la Asociación Argentina de Farmacología Experimental y XI Reunión Anual de la Asociación Argentina de Nanomedicinas; Ciudad Autónoma de Buenos Aires; Argentina; 2021; 115-115
0025-7680
1669-9106
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://medicinabuenosaires.com/revistas/vol81-21/s3/Mv81s3.pdf
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
application/pdf
application/pdf
dc.coverage.none.fl_str_mv Nacional
dc.publisher.none.fl_str_mv Fundación Revista Medicina
publisher.none.fl_str_mv Fundación Revista Medicina
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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