Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.
Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.
复制标题
DOI：
10.1186/s12881-017-0486-4
复制
发表时间：
2017-11-15
影响因子：
--
通讯作者：
Chen X
中科院分区：
文献类型：
--
作者：
Li X;Xie H;Chen Q;Yu X;Yi Z;Li E;Zhang T;Wang J;Zhong J;Chen X
包括MECP 2基因在内的Xq 28区域的染色体重复具有一致的临床表型和独特的面部表型，称为MECP 2重复综合征。典型的临床特征包括婴儿肌张力减退、轻度畸形特征、广泛的神经发育障碍、复发性感染和进行性痉挛。这个中国MECP 2重复综合征家族包括6名患者（5名男性和1名女性）和4名无症状女性携带者。采用4 × 180 K CNV + SNP芯片和定制的8 × 60 K CNV芯片检测MECP 2的复制，然后进行荧光原位杂交（FISH）分析以确定MECP 2的确切拷贝数。对所有女性家系成员进行AR基因的X染色体失活（XCI）分析，并对MECP 2区域进行微卫星分析以验证MECP 2区域的重组事件。受影响的男性受试者表现出广泛的神经发育症状（严重智力残疾、发育迟缓、癫痫发作、语言缺陷和自闭症谱系障碍）以及面部畸形和其他症状，这些症状与之前报道的西方患者一致。首次在中国患者中报告癫痫发作。此外，我们验证了三个重组事件的MECP 2重复等位基因在母体传播由于X同源重组。我们提供了已知最大的中国家系MECP 2重复综合征。所有受累家族成员的详细临床描述和分子遗传学特征进一步描述了该基因组疾病在中国人群中的典型表型。本文的在线版本（10.1186/s12881-017-0486-4）包含补充材料，可供授权用户使用。
Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia, mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers. Two kinds of chips including 4x180K CNV + SNP chip and custom 8x60K CNV chip were used to detect MECP2 duplication, and then fluorescent in situ hybridization (FISH) analysis was performed to identify the exact copy number of MECP2. X-chromosome inactivation (XCI) analysis on AR gene was detected for all female family members, and the microsatellite analysis on MECP2 was used to validate the recombination event on MECP2 region. The affected male subjects presented with a broad range of neurodevelopmental symptoms (severe intellectual disability, developmental delay, seizure, language deficit, and autism spectrum disorder) as well as facial dysmorphism and other symptoms which were consistent with that of Western patients previous reported. Seizure is reported in Chinese patients for the first time. In addition, we validated three recombination events for the MECP2-duplication allele during maternal transmission due to X homologous recombination. We provided the largest known Chinese pedigree with MECP2 duplication syndrome. The detailed clinical description and molecular genetic characterization in all affected family members further delineate the typical phenotype of this genomic disorder in Chinese population. The online version of this article (10.1186/s12881-017-0486-4) contains supplementary material, which is available to authorized users.
登录
查看更多内容
影响因子：
5.2
作者：
Sanlaville, D;Prieur, M;Turleau, C
通讯作者：
Turleau, C
影响因子：
--
作者：
Hanchard, Neil A.;Carvalho, Claudia M. B.;Cheung, Sau Wai
通讯作者：
Cheung, Sau Wai
影响因子：
3.5
作者：
Lin, Dar-Shong;Chuang, Tzu-Po;Li, Ling-Hui
通讯作者：
Li, Ling-Hui
影响因子：
4
作者：
Meins, M;Lehmann, J;Epplen, JT
通讯作者：
Epplen, JT
影响因子：
30.8
作者：
Jones, PL;Veenstra, GJC;Wolffe, AP
通讯作者：
Wolffe, AP