GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort

Genes

CarlosD. Bruque¹  Florencia Giliberto²  Leonela Luce²  Viviana Dalamón³  Paula Buonfiglio³  AnaBelén Elgoyhen³  Vanesa Lotersztein⁴  Sebastián Menazzi⁵  Bibiana Paoli⁶ 

[1] Centro Nacional de Genética Médica, ANLIS-Malbrán, C1425 Ciudad Autónoma de Buenos Aires, Argentina;Laboratorio de Distrofinopatías, Cátedra de Genética, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, C1113AAD Ciudad Autónoma de Buenos Aires, Argentina;Laboratorio de Fisiología y Genética de la Audición, Instituto de Investigaciones en Ingeniería Genética y Biología Molecular “Dr. Héctor N. Torres”, Consejo Nacional de Investigaciones Científicas y Técnicas—INGEBI/CONICET, C1428ADN Ciudad Autónoma de Buenos Aires, Argentina;Servicio de Genética, Hospital Militar Central “Dr. Cosme Argerich”, C1426 Ciudad Autónoma de Buenos Aires, Argentina;Servicio de Genética, Hospital de Clínicas “José de San Martín”, C1120AAR Ciudad Autónoma de Buenos Aires, Argentina;Servicio de Otorrinolaringología Infantil, Hospital de Clínicas “José de San Martín”, C1120AAR Ciudad Autónoma de Buenos Aires, Argentina;

关键词: GJB2;    GJB6;    genetic variants;    curation;    hearing loss;    argentina;   

DOI  :  10.3390/genes11101233

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown