一例先天性眼外肌纤维化患儿TUBB3基因的变异分析  

Analysis of TUBB3 gene mutation in a child with congenital fibrosis of extraocular muscles

作　　者：李晓东[1] 李函[2] 程铭烨 黄莉[2] LI Xiaodong;LI Han;CHENG Mingye;HUANG Li(Department of Pediatrics,Tianchang People s Hospital,Tianchang 239399,China;Department of Pediatrics,Zhongda Hospital,Southeast University,Nanjing 210009,China)

机构地区：[1]天长市人民医院儿科,安徽天长239300 [2]东南大学附属中大医院儿科,江苏南京210009

出　　处：《东南大学学报（医学版）》2022年第6期860-862,共3页Journal of Southeast University(Medical Science Edition)

基　　金：江苏省妇幼健康科研项目(F201863)。

摘　　要：目的:对1例先天性眼外肌纤维化患儿的TUBB3基因突变进行分析,寻找其病因。方法:对患儿进行高分辨率高通量的全基因组芯片CNV分析及医学全外显子基因检测,并行Sanger测序验证。结果:未发现疾病相关CNV区域。医学全外显子基因检测出患儿TUBB3基因的c.904G>T(p.Ala302Ser)杂合突变,该突变点在HGMD数据库未见报道,ACMG指南将其判定为致病性变异。Sanger测序验证结果显示患儿父母双方均未检出该变异。结论:TUBB3基因c.904G>T(p.Ala302Ser)杂合突变可能是该患儿的致病原因。Objective: To explore the genetic cause of a child with congenital fibrosis of extraocular muscles(CFEOM) by analyzing the mutation of TUBB3 gene. Methods: High throughput sequencing for whole genome copy number variant(CNV) and whole-exome sequencing were carried out for the child, and Sanger sequencing was performed for data validation. Results: No related CNV region was found in the patient. Heterozygous mutation of c.904G>T(p.Ala302Ser)of the TUBB3 gene in the child was detected out by whole-exome sequencing, which had not been reported in the human gene mutation database and was regarded as a pathogenic mutation according to the ACMG guidelines. Sanger sequencing results showed that no mutation was found in the child’s parents. Conclusion: The heterozygous mutation of c.904G>T(p.Ala302Ser)of the TUBB3 gene may be the pathogenesis of the child with CFEOM.

关 键 词：先天性眼外肌纤维化 TUBB3基因 杂合突变 全外显子测序 

分 类 号：R777.4[医药卫生—眼科]