伴有PAX9突变非综合征型先天缺牙患者的牙颌面表型研究

窦嘉琪, 高洁, 卞晓玲, 王凤, 代庆刚, 吴轶群

Dentofacial phenotype of non-syndromic tooth agenesis patients with PAX9 mutation

DOU Jiaqi, GAO Jie, BIAN Xiaoling, WANG Feng, DAI Qinggang, WU Yiqun

表1 PAX9 突变NSTA患者的一般信息和突变总结

Tab 1 General information and summary of NSTA patients with PAX9 mutation

Patient Gender Age/year Nucleotide change Amino acid change Exon Sub-domain Zygosity Type of mutation 1 Male 19 c.305delT p.I102Tfs*19 2 CSD Het Frameshift 2 Female 13 c.C365A p.S122Y 2 CSD Het Missense 3 Female 31 c.G151A p.G51S 2 NSD Het Missense 4 Male 26 c.189delG p.G64Afs*21 2 NSD Het Frameshift 5 Female 23 c.G151A p.G51S 2 NSD Het Missense 6 Female 19 c.131_134del p.Q45Yfs*39 2 NSD Het Frameshift 7 Male 7 c.G337A p.D113N 2 CSD Het Missense