![]() (2) The identification of variant(s) of uncertain significance cannot be used to confirm or rule out the diagnosis. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms " pathogenic variant" and " likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making. The diagnosis of a specific genetic cause of hearing loss is established in a proband with suggestive findings and pathogenic (or likely pathogenic) variant(s) in the causative gene identified by molecular genetic testing. See Liming et al ( full text) and Li et al ( full text). Molecular genetic testing is the standard of care in evaluation of individuals with hearing loss. Nonsyndromic deafness loci are designated DFN (for Dea FNess) and further classified by mode of inheritance (DFN A: autosomal dominant DFN B: autosomal recessive DFN X: X-linked) and a number indicating the numeric locus assigned in the course of gene mapping. Note: Nonsyndromic hearing impairment may be referred to by the gene involved (e.g., OTOF-related deafness) or by the genetic locus (e.g., DFNB9). Although comparable data are not available for postlingual nonsyndromic genetic hearing loss, autosomal dominant inheritance is most common. ![]() Nonsyndromic hearing loss may also be inherited in an autosomal dominant manner (19%) or, rarely, associated with mitochondrial or X-linked inheritance (<1%). In most individuals with nonsyndromic genetic hearing loss (80%), hearing loss is associated with biallelic pathogenic variants and inherited in an autosomal recessive manner. As of this writing, more than 125 genes are associated with nonsyndromic hearing loss (a regularly updated, comprehensive list of identified nonsyndromic hearing loss genes is available at the Hereditary Hearing Loss Homepage).Īpproximately 70% of prelingual genetic hearing loss is nonsyndromic (see Figure 1) ( full text).
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