Figure 3
From: Copy number variants are a common cause of non-syndromic hearing loss
A two-exon deletion of TMC1 is responsible for deafness in patient 100. (a) Ratio depth-of-coverage plot showing a two-exon heterozygous deletion. This deletion was found in trans with a missense change predicted to be pathogenic (c.1276G > A, p.Ala426Thr). (b) Highlighted region from UCSC genome browser RepeatMasker track demonstrates multiple short interspersed elements (SINEs; primarily Alu repeats), long interspersed elements (LINEs; including L1 repeats), and long terminal repeats (LTR) in this region. The two deleted exons are marked with asterisks. The hypothesized mechanism for this deletion involves these repeat elements and NAHR.