Further Defining the Critical Genes for the 4q21 Microdeletion Disorder
Further Defining the Critical Genes for the 4q21 Microdeletion Disorder
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进一步定义 4q21 微缺失疾病的关键基因。
DOI：
10.1002/ajmg.a.37965
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发表时间：
2017-01-01
影响因子：
2
通讯作者：
Shen, Yiping
中科院分区：
文献类型：
--
作者：
Hu, Xuyun;Chen, Xiaoli;Shen, Yiping
4q21微缺失综合征(MIM：613509)是一种以智力障碍、言语缺失或严重迟缓、生长发育迟缓、低眼压、可变性脑畸形和面部畸形为特征的新的基因组疾病。关键基因是基于1.37Mb的基因组重叠区域提出的。自2010年以来，没有进行进一步的改进。在这里，我们提出了三例4q21缺失的病例，通过临床染色体微阵列分析确定。其中一个病例有761kb的缺失，这是迄今报道的该基因座上最小的缺失。这为进一步确定与4q21微缺失综合征的特定特征相关的关键区域/基因提供了机会。有证据支持PRKG2和RASGEF1B是导致智力残疾和语言缺陷的关键基因，而异质性核糖核蛋白HNRNPD和HNRNPDL(以前称为HNRPDL)基因与生长迟缓和低眼压有关。(C)2016威利期刊公司。
4q21 microdeletion syndrome (MIM: 613509) is a new genomic disorder characterized by intellectual disability, absent or severely delayed speech, growth retardation, hypotonia, variable brain malformation, and facial dysmorphism. The critical genes had been proposed based on an overlapping 1.37 Mb genomic region. No further refinement has been done since year 2010. Here, we present three cases with 4q21 deletion identified by clinical chromosomal microarray analysis. One of the cases have a de novo 761 kb deletion which is the smallest deletion ever reported at this locus. It provides an opportunity to further define the critical regions/genes associated with specific features of the 4q21 microdeletion syndrome. The evidence support the notion that PRKG2 and RASGEF1B are critical genes for intellectual disability and speech defect, and the heterogeneous nuclear ribonucleoprotein HNRNPD and HNRNPDL (previously known as HNRPDL) genes are associated with growth retardation and hypotonia. (C) 2016 Wiley Periodicals, Inc.