Figure 1.

HECW1 mutation revealed by (A) whole-exome sequencing and (B-F) Sanger sequencing. (A) Sequencing analysis of HECW1 was aligned by Integrative Genomics Viewer 2.0 tool, which indicated a base substitution (G to T). (B) A case of missense mutation (GCC to ACC) in HECW1 was validated at the same mutation point by Sanger sequencing. (C-E) A total of three cases of missense mutation (CCC to ACC) in HECW1 were detected in nearby areas by Sanger sequencing. (F) A case of nonsense mutation (TCG to TAG) was validated in a nearby area by Sanger sequencing. The mutation points are presented by an arrow and were confirmed with the reverse strand (not shown). HECW1, HECT, C2 and WW domain-containing E3 ubiquitin protein ligase 1.