Fig. 1

Enrollment and outcomes of subjects participating in follow-up interviews. Genetic screening results were classified as follows: positive (biallelic variants in either GJB2 or SLC26A4), inconclusive (a heterozygous variant in GJB2 or SLC26A4, or presence of any GJB3 variant), at-risk (any mitochondrial variant), and negative (no variant).^a Considering limited samples size of subjects with biallelic variants from 2012 to 2016, we initiated interviews for a new group of subjects with biallelic autosomal or homoplasmic mitochondrial variants from January to September 2017, with subjects with positive (n = 71), homoplasmic at-risk (n = 536), and homozygous GJB3 (n = 2) results targeted for follow-up.