[一名患有X连锁智力障碍儿童的IQSEC2基因变异分析]
[Analysis of IQSEC2 gene variant in a child with X-linked mental retardation].
作者信息
Zhao Jianbo, Yang Xinying, Li Jiuwei, Wang Hongmei, Zhang Weihua, Fang Fang
机构信息
Department of Neurology, Beijing Children' s Hospital, Capital Medical University, National Center for Children' s Health, Beijing 100045, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):421-424. doi: 10.3760/cma.j.cn511374-20201030-00765.
OBJECTIVE
To analyze the clinical phenotype and genetic variants of a child with X-linked mental retardation caused by IQSEC2 gene mutation, and provide reference for the diagnosis of the disease.
METHODS
The child was subjected to next generation sequencing (NGS), and the diagnosis was made by taking consideration of her clinical characteristics.
RESULTS
The child has presented with global developmental delay, particularly in fine motor skill and language development, in addition with intellectual disability. Genetic testing revealed that she has harbored a heterozygous c.1861dup variant of the IQSEC2 gene, which was not detected in either parent.
CONCLUSION
The de novo c.186ldup variant of the IQSEC2 gene probably underlay the X-linked mental retardation in this child. Above finding has, expanded the spectrum of IQSEC2 gene mutations and provide a basis for the diagnosis of similar cases.
目的
分析1例因IQSEC2基因突变导致的X连锁智力障碍患儿的临床表型及基因变异情况，为该病的诊断提供参考。
方法
对该患儿进行二代测序（NGS），并结合其临床特征进行诊断。
结果
该患儿存在全面发育迟缓，尤其是精细运动技能和语言发育方面，同时伴有智力残疾。基因检测显示，她携带IQSEC2基因的杂合c.1861dup变异，其父母均未检测到该变异。
结论
IQSEC2基因的新发c.1861dup变异可能是该患儿X连锁智力障碍的病因。上述发现扩展了IQSEC2基因突变谱，为类似病例的诊断提供了依据。
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