[甲基化CpG结合蛋白2重复综合征的临床表型与基因分析]
[Clinical phenotype and genetic analysis of MECP2 duplication syndrome].
作者信息
Chen Duo, Wang Luxun, Hou Yaqin, Shi Panlai, Qin Guijun, Kong Xiangdong
机构信息
Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Henan 450052, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Dec 10;38(12):1190-1193. doi: 10.3760/cma.j.cn511374-20200603-00407.
OBJECTIVE
To analyze the clinical symptom and parental origin of patients with MECP2 duplication syndrome in order to provide a basis for genetic counseling and prenatal diagnosis.
METHODS
Clinical symptoms of four patients who were diagnosed with MECP2 duplication syndrome by copy number variation sequencing (CNV-Seq) were reviewed. The maternal origin of the duplications were verified.
RESULTS
All patients were males, and CNV-Seq revealed that they have all harbored a duplication in the Xq28 region spanning 0.32 ~ 0.86 Mb, which were derived from asymptomatic mothers. The clinical symptoms of three patients with three copies included delayed speech, intellectual disability, and muscular hypotonia, while the patient with four copies had died at 6 months after birth, with clinical symptoms including recurrent infections, seizures, and spasticity.
CONCLUSION
The four cases of MECP2 duplication syndrome have shown complete penetrance and have all derived from asymptomatic mothers. As a stable and reliable method, CNV-Seq can accurately detect the MECP2 duplication syndrome.
目的
分析MECP2重复综合征患者的临床症状及亲本来源，为遗传咨询和产前诊断提供依据。
方法
回顾4例经拷贝数变异测序（CNV-Seq）诊断为MECP2重复综合征患者的临床症状，并验证重复片段的母系来源。
结果
所有患者均为男性，CNV-Seq显示他们均在Xq28区域存在0.32~0.86 Mb的重复，均来源于无症状母亲。3例携带3份拷贝的患者临床症状包括语言发育迟缓、智力障碍和肌张力减退，而携带4份拷贝的患者出生后6个月死亡，临床症状包括反复感染、癫痫发作和痉挛。
结论
4例MECP2重复综合征病例均表现为完全外显，且均来源于无症状母亲。CNV-Seq作为一种稳定可靠的方法，可准确检测MECP2重复综合征。
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