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. Author manuscript; available in PMC: 2022 Dec 8.
Published in final edited form as: Genet Med. 2022 Oct 4;24(12):2555–2567. doi: 10.1016/j.gim.2022.08.028

Figure 1.

Figure 1.

Summary of familial testing results of 246 unique probands with hearing loss. A) Review of design and rate of de novo mutation (DNM) by diagnosis type. Variants in 8 probands were in cis or did not segregate with the disease phenotype, and were excluded from subsequent analysis. For the remainder, diagnoses were classified based on the expected or known pattern of inheritance of the variants in question. B) Summary of hearing loss diagnoses due to common genetic causes (GJB2, SLC26A4, STRC), uncommon recessive, dominant, and X-linked hereditary etiologies, and DNM within the cohort. C-D) Nucleotide change and mutation types among DNMs in this cohort. E) Number of probands with hearing loss diagnoses due to inherited vs. de novo variants among trios examined.