TSR1突变导致先天性白内障及其在晶状体中的表达

于雅洁, 邱峰, 张新安

Studies of congenital cataract-related TSR1 mutation and its expression in the lens

Yu Yajie, Qiu Feng, Zhang Xin-an

表1 全外显子组测序可疑位点Sanger测序验证情况

Table 1 Sanger sequencing of suspected variants of whole exome sequencing

编号 染色体 基因名 NM号 变异 功能 是否共分离 1 Chr.1 PDE4DIP NM_001002811 c.A622G:p.T208A exonic 否 2 Chr.1 ATP1B1 NM_001677 c.*464_*465insT UTR3 否 3 Chr.2 C2orf68 NM_001013649 c.*243_*239delTTTTT UTR3 否 4 Chr.5 CXCL14 NM_004887 c.*110_*92delAAAAAAAAAAAAAAAAAAA UTR3 否 5 Chr.8 ARHGAP39 NM_025251 c.T1352G:p.M451R exonic 否 6 Chr.10 NCOA4 NM_001145260 c.T22G:p.F8V exonic 否 7 Chr.12 KDM5A NM_001042603 c.-12delC UTR5 否 8 Chr.12 TPCN1 NM_001301214 c.G854C:p.R285T exonic 否 9 Chr.15 MEF2A NM_001130928 c.1027_1029del:p.Q352del exonic 否 10 Chr.17 TSR1 NM_018128 c.202-1G>A splicing 是 11 Chr.17 ABCA10 NM_080282 c.A1297G:p.K433E exonic 否 12 Chr.18 TPGS2 NM_001330572 c.G734A:p.S245N exonic 否 13 Chr.21 TMPRSS15 NM_002772 c.T1509A:p.N503K exonic 否 14 Chr.22 SEPT3 NM_019106 c.*129_*130insTGTG UTR3 否