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
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兰嵘, 代庆刚, 喻康, 卞晓玲, 叶丽娟, 吴轶群, 王凤
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Congenital tooth agenesis-related EDAR variants and pedigree analysis of HED patients with two variants
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LAN Rong, DAI Qinggang, YU Kang, BIAN Xiaoling, YE Lijuan, WU Yiqun, WANG Feng
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表1 5名先天缺牙患者 EDAR 及 EDA 突变位点致病性预测
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Tab 1 Pathogenicity prediction of EDAR and EDA mutations in five patients
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| ID | Gene | Gender | Age/year | Pheno-type | Nucleotide change (amino acid change) | Zygosity | Mutation type | ACMG criteria | Polyphen⁃2 (score) | Mutation taster | Provean (score) | Novel or reported |
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| 1 | EDAR | Female | 31 | HED | c.368_369insC (p.L123fs) | Hom | Frameshift | LP(PVS1, PM2, PP1) | NA | Disease causing | NA | YU, et al.[8] | | 2 | EDAR | Female | 9 | HED | c.77C>T (p.A26V) | cHet | Missense | LP(PS1, PM2, PP3) | PD (0.99) | Polymor-phism | Neutral (-1.399) | PLAISANCIÉ, et al.[9] | | EDAR | Female | 9 | HED | c.1281G>C (p.L427F) | cHet | Missense | LP(PM1, PM2, PP3, PM3) | PD (1.00) | Disease causing | Neutral (-1.061) | Novel | | 3 | EDAR | Male | 9 | HED | c.1138A>C (p.S380R) | Het | Missense | VUS(PM3, BP3, BP5) | PD (1.00) | Polymor-phism | Neutral (-0.948) | ZHANG, et al.[10] | | EDA | Male | 9 | HED | c.1013C>T (p.T338M) | Hemi | Missense | P(PS3, PM1, PM2, PP1, PP3) | PD (1.00) | Disease causing | Neutral (-2.145) | LI, et al.[11] | | 4 | EDAR | Male | 16 | NSTA | c.380C>T (p.P127L) | Het | Missense | VUS(PM2, PP1, PP3) | PD (0.99) | Disease causing | Neutral (-0.335) | YU, et al.[8] | | 5 | EDAR | Male | 19 | NSTA | c.77C>A (p.A26E) | Hom | Missense | VUS(PM2, PM3, PM5) | PD (0.99) | Polymor-phism | Neutral (-1.271) | Novel |
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