Abstract
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.
Highlights
IntroductionCongenital hearing loss (HL) is the most common sensory disorder that affects approximately
Congenital hearing loss (HL) is the most common sensory disorder that affects approximately1–2 of 1000 infants, with 50% of cases resulting from genetic factors [1]
Autosomal recessive loci are related to a prelingual HL, while autosomal dominant loci to a postlingual
Summary
Congenital hearing loss (HL) is the most common sensory disorder that affects approximately. 1–2 of 1000 infants, with 50% of cases resulting from genetic factors [1]. In 70–80% of neonates who fail newborn hearing screening, no other distinguishing physical findings are present and the HL is classified as non-syndromic. The majority of non-syndromic cases are of autosomal recessive inheritance (80%), 12–15% autosomal dominant, 1–5% X-linked and 1–5% mitochondrial [2]. Autosomal recessive loci are related to a prelingual HL, while autosomal dominant loci to a postlingual. A total of 121 non-syndromic causative genes have been described: 76 of recessive inheritance, 49 of dominant inheritance and five X-linked (some genes can cause recessive and dominant hearing impairment) [4]
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