一个非综合征型先天缺牙家系的MSX1基因突变分析

doi:10.6040/j.issn.1671-7554.0.2018.1302

摘要/Abstract

摘要： 目的对一个非综合征型先天缺牙家系进行候选致病基因测序,以寻找该家系的致病基因。方法收集首都医科大学附属北京儿童医院口腔科就诊的1例非综合征型先天缺牙患者及其家系成员的临床资料及血液标本,检测先天缺牙常见的致病基因,对寻找到的可疑突变进行生物信息学分析及表型分析。结果患者的肌节同源盒基因1(MSX1)携带一个错义突变:MSX1第2外显子发生杂合突变(c.547C>A),即核苷酸第547位C变为A,导致氨基酸第183位由谷氨酰胺(Glutamine)变为赖氨酸(Lysine),即Gln183Lys(p.Q183K)。保守性分析显示该位点在进化过程中高度保守。突变致病性预测显示该突变有很强的致病性。结论本研究在一个非综合征型先天缺牙患者中发现了MSX1基因的新突变c.547C>A,进一步证实了MSX1基因突变与非综合征型先天缺牙的关系,并扩大了MSX1基因突变谱。

关键词: 非综合征型先天缺牙, 基因突变, 肌节同源盒基因1

Abstract: Objective To search for the disease-causing gene in a family with non-syndromic tooth agenesis. Methods A family with non-syndromic tooth agenesis was recruited from Beijing Childrens Hospital. The clinical data were collected and genomic DNAs were extracted from peripheral blood lymphocytes. The common pathogenic genes of tooth agenesis were detected, and the bioinformatic and phenotypic information of the suspected mutation was analyzed. Results A de novo MSX1 missense mutation(c.547C>A)was identified, which resulted in the substitution of Gln at residue 183 for Lys(p.Q183K); residue 105 was located in the highly conserved region of the MSX1 protein. Mutation pathogenicity predictions showed that the mutation was highly pathogenic. Conclusion A de novo MSX1 missense mutation is identified in a patient with non-syndromic tooth agenesis, which confirms the relationship between MSX1 mutation and non-syndromic tooth agenesis and extends the mutation spectrum of the MSX1 gene.

Key words: Non-syndromic tooth agenesis, Gene mutation, Muscle segment homoebox gene 1

中图分类号:

丁婷婷,邹东,刘浩辰. 一个非综合征型先天缺牙家系的MSX1基因突变分析[J]. 山东大学学报 (医学版), 2019, 57(4): 97-100.

DING Tingting, ZOU Dong, LIU Haochen. An analysis of the mutation of MSX1 gene in a non-syndromic tooth agenesis family[J]. Journal of Shandong University (Health Sciences), 2019, 57(4): 97-100.

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