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. 2015 Feb 2;125(3):1124–1128. doi: 10.1172/JCI77262

Figure 2. IS families and cases with exon 10 POC5 SNVs.

Figure 2

Forty additional IS families and 150 IS cases were studied. (A) IS families F19, F35, and F41 and IS cases C39, C58, and C83 show the same c.1336G>A POC5 rare missense SNV listed in dbSNP138 (rs34678567). Sample chromatogram for an IS patient with this SNV is shown. The position of the SNV is indicated by an arrow above the chromatogram. Pedigrees of families and cases are shown. (B) IS family F31 harboring the c.1363G>C POC5 novel missense SNV and corresponding chromatogram. (C) IS cases C1, C77, C137, C149, and C150 harboring the c.1286C>T POC5 rare missense SNV listed in dbSNP138 (rs146984380) and corresponding sequence chromatograms. Cobb’s angle and genotype at the mutated position are indicated below symbols corresponding to individuals.