[对一个患有X连锁智力障碍的中国家系进行全外显子组测序分析]
[Whole exome sequencing analysis for a Chinese pedigree affected with X-Linked intellectual disability].
作者信息
Tang Shaohua, Jia Manli, Chen Chong, Li Huanzheng, Hu Lin, Luan Zhaotang, Xu Xueqin, Lyu Jianxin
机构信息
School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):403-407. doi: 10.3760/cma.j.issn.1003-9406.2018.03.022.
OBJECTIVE
To explore the clinical features and genetic mutation in a family affected with non-syndrome X-linked intellectual disability (NS-XLID) using whole exome sequencing (WES).
METHODS
Multiplex ligation-dependent probe amplification (MLPA) was applied to screen potential mutations of Fragile X syndrome (FXS). Whole exome sequencing (WES) and Sanger sequencing were screen for pathological mutations.
RESULTS
FXS was excluded by MLPA analysis. WES has discovered in the proband an ARX gene mutation c.88G>T, which was confirmed by Sanger sequencing. Combining his clinical phenotype with information from the OMIM database, it was inferred that the ARX mutation probably underlies the NS-XLID in the proband. The same mutation was found in his mother and two uncles but not in his father and sister.
CONCLUSION
WES is capable of revealing the mutation underlying NS-XLID and can facilitate genetic counseling for the affected families.
目的
运用全外显子组测序（WES）探究一个患有非综合征性X连锁智力障碍（NS-XLID）的家系的临床特征及基因突变情况。
方法
应用多重连接依赖探针扩增技术（MLPA）筛选脆性X综合征（FXS）的潜在突变。采用全外显子组测序（WES）和桑格测序筛选致病突变。
结果
MLPA分析排除了FXS。WES在先证者中发现了ARX基因突变c.88G>T，经桑格测序得以证实。结合其临床表型及来自OMIM数据库的信息，推测该ARX基因突变可能是先证者NS-XLID的病因。在其母亲和两个舅舅中发现了相同的突变，而在其父亲和姐姐中未发现。
结论
WES能够揭示NS-XLID的潜在突变，可为受累家庭提供遗传咨询。
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