先天缺牙相关EDAR基因突变报道及携带双突变位点的HED家系分析

兰嵘, 代庆刚, 喻康, 卞晓玲, 叶丽娟, 吴轶群, 王凤

Congenital tooth agenesis-related EDAR variants and pedigree analysis of HED patients with two variants

LAN Rong, DAI Qinggang, YU Kang, BIAN Xiaoling, YE Lijuan, WU Yiqun, WANG Feng

图3 2位携带双突变位点的HED患者家系分析及Sanger测序结果 Note： A. #2 proband carried compound heterozygous missense mutation, EDAR c.77C>T(p.A26V) from her father and EDAR c.1281G>C(p.L427F) from her mother; B. #3 proband carried EDAR c.1138A>C(p.S380R) heterozygous mutation and EDA c.1013C>T(p.T338M) hemizygous mutation, both from his mother. Squares indicate males, and circles indicate females. Filled squares/circles represent individuals with tooth agenesis, and empty ones represent unaffected subjects. Red knots mean that variants were verified by Sanger sequencing.

Fig 3 Pedigree analysis and Sanger sequencing of two HED patients with two variants