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. 2015 Oct 30;94(47):e1996. doi: 10.1097/MD.0000000000001996

FIGURE 4.

FIGURE 4

The second phase of TRS-134 data analyses (SB10–23, SB22–51, and SB204–398). (A) Targeted resequencing (TRS) data for SB10–23 and SB204–398 by the IGV viewer. A red box shows TRS capture failure compared with the control. The black box indicates each exon (referred to as “E”). (B) The region where a large genomic deletion is suspected in OTOF for SB22–51. Supportive discordant readings are distributed between Exon 11–13. (C) The result of breakpoint polymerase chain reaction (PCR) using our primer set shows genomic deletion of exon 12 in SB22–51 (proband), which is derived from SB22–53 (mother)'s one, while SB22–52 (father) has a normal allele with no deletion as below. The rightmost one is water control. Long range PCR and sequence analysis of PCR product figure out the exact breakpoint (chr2:26,710,657–chr2:26,706,557) with skipped exon 12. TRS-134 = targeted resequencing of the known 134 deafness genes.