Artículo
GJB2 and GJB6 genetic variant curation in an Argentinean non-syndromic hearing-impaired cohort
Buonfiglio, Paula Inés
; Bruque, Carlos David
; Luce, Leonela Natalia
; Giliberto, Florencia
; Lotersztein, Vanesa; Menazzi, Sebastián; Paoli, Bibiana Patricia; Elgoyhen, Ana Belen
; Dalamon, Viviana Karina
Fecha de publicación:
21/10/2020
Editorial:
MDPI AG
Revista:
Genes
ISSN:
2073-4425
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
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. The y 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. The se 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.
Palabras clave:
ARGENTINA
,
CURATION
,
GENETIC VARIANTS
,
GJB2
,
GJB6
,
HEARING LOSS
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Articulos(INGEBI)
Articulos de INST.DE INVEST.EN ING.GENETICA Y BIOL.MOLECULAR "DR. HECTOR N TORRES"
Articulos de INST.DE INVEST.EN ING.GENETICA Y BIOL.MOLECULAR "DR. HECTOR N TORRES"
Articulos(INIGEM)
Articulos de INSTITUTO DE INMUNOLOGIA, GENETICA Y METABOLISMO
Articulos de INSTITUTO DE INMUNOLOGIA, GENETICA Y METABOLISMO
Citación
Buonfiglio, Paula Inés; Bruque, Carlos David; Luce, Leonela Natalia; Giliberto, Florencia; Lotersztein, Vanesa; et al.; GJB2 and GJB6 genetic variant curation in an Argentinean non-syndromic hearing-impaired cohort; MDPI AG; Genes; 11; 10; 21-10-2020; 1-18
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