GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort
Genetic variants in GJB2 and GJB6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis enables proper genetic counseling and medical prognosis to patients. In this study, we present an update of testing results in a cohort of Arg...
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| Veröffentlicht in: | Genes 2020-10, Vol.11 (10), p.1233 |
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| creator | Buonfiglio, Paula Bruque, Carlos D. Luce, Leonela Giliberto, Florencia Lotersztein, Vanesa Menazzi, Sebastián Paoli, Bibiana Elgoyhen, Ana Belén Dalamón, Viviana |
| description | Genetic variants in GJB2 and GJB6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis enables proper genetic counseling and medical prognosis to patients. In this study, we present an update of testing results in a cohort of Argentinean non-syndromic hearing-impaired individuals. A total of 48 different sequence variants were detected in genomic DNA from patients referred to our laboratory. They were manually curated and classified based on 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. More than 50% of sequence variants were reclassified from their previous categorization in ClinVar. These results provide an accurately interpreted set of variants to be taken into account by clinicians and the scientific community, and hence, aid the precise genetic counseling to patients. |
| doi_str_mv | 10.3390/genes11101233 |
| format | Article |
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Molecular diagnosis enables proper genetic counseling and medical prognosis to patients. In this study, we present an update of testing results in a cohort of Argentinean non-syndromic hearing-impaired individuals. A total of 48 different sequence variants were detected in genomic DNA from patients referred to our laboratory. They were manually curated and classified based on 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. More than 50% of sequence variants were reclassified from their previous categorization in ClinVar. 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This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). 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Bruque, Carlos D. ; Luce, Leonela ; Giliberto, Florencia ; Lotersztein, Vanesa ; Menazzi, Sebastián ; Paoli, Bibiana ; Elgoyhen, Ana Belén ; Dalamón, Viviana</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c420t-94a225eec80ed713aee111b2cdba0c7b44711d711bf8c5f7976a2d3cc6c9e2d83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic counseling</topic><topic>Genetic diversity</topic><topic>Genetic variation</topic><topic>Genomics</topic><topic>Genotype & phenotype</topic><topic>Hearing loss</topic><topic>Medical screening</topic><topic>Mutation</topic><topic>Nucleotide sequence</topic><topic>Observations</topic><topic>Patients</topic><topic>Physiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Buonfiglio, Paula</creatorcontrib><creatorcontrib>Bruque, Carlos D.</creatorcontrib><creatorcontrib>Luce, Leonela</creatorcontrib><creatorcontrib>Giliberto, Florencia</creatorcontrib><creatorcontrib>Lotersztein, Vanesa</creatorcontrib><creatorcontrib>Menazzi, Sebastián</creatorcontrib><creatorcontrib>Paoli, Bibiana</creatorcontrib><creatorcontrib>Elgoyhen, Ana Belén</creatorcontrib><creatorcontrib>Dalamón, Viviana</creatorcontrib><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Buonfiglio, Paula</au><au>Bruque, Carlos D.</au><au>Luce, Leonela</au><au>Giliberto, Florencia</au><au>Lotersztein, Vanesa</au><au>Menazzi, Sebastián</au><au>Paoli, Bibiana</au><au>Elgoyhen, Ana Belén</au><au>Dalamón, Viviana</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort</atitle><jtitle>Genes</jtitle><date>2020-10-21</date><risdate>2020</risdate><volume>11</volume><issue>10</issue><spage>1233</spage><pages>1233-</pages><issn>2073-4425</issn><eissn>2073-4425</eissn><abstract>Genetic variants in GJB2 and GJB6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. 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| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central Open Access; MDPI - Multidisciplinary Digital Publishing Institute; PubMed Central |
| subjects | Genes Genetic aspects Genetic counseling Genetic diversity Genetic variation Genomics Genotype & phenotype Hearing loss Medical screening Mutation Nucleotide sequence Observations Patients Physiology |
| title | GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort |
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