Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q
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DOI：
10.1038/ejhg.2010.116
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发表时间：
2010-12-01
影响因子：
5.2
通讯作者：
Mundlos, Stefan
中科院分区：
文献类型：
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作者：
Kantaputra, Piranit N.;Klopocki, Eva;Mundlos, Stefan
Kantaputra型中肢发育不良（MDK）的特征是上下肢明显的中肢缩短，最初描述于一个泰国家族。为了确定MDK的原因，我们进行了阵列CGH，并确定了2号染色体（2q31.1-q31.2）上的两个微重复，包含类似的481和507 kb，由正常拷贝数的片段分隔。更多的着丝粒重复包括整个HOXD簇，以及相邻的基因EVX 2和MTX 2。重复的断点定位于与先前鉴定的小鼠突变体ulnaless（Ul）的倒位相同的区域，其具有与MDK相似的表型。我们认为MDK是由复制引起的，复制改变了基因座的地形，因此导致HOXD基因表达失调。European Journal of Human Genetics（2010）18，1310-1314; doi：10.1038/ejhg.2010.116; 2010年7月21日在线发表
Mesomelic dysplasia Kantaputra type (MDK) is characterized by marked mesomelic shortening of the upper and lower limbs originally described in a Thai family. To identify the cause of MDK, we performed array CGH and identified two microduplications on chromosome 2 (2q31.1-q31.2) encompassing similar to 481 and 507 kb, separated by a segment of normal copy number. The more centromeric duplication encompasses the entire HOXD cluster, as well as the neighboring genes EVX2 and MTX2. The breakpoints of the duplication localize to the same region as the previously identified inversion of the mouse mutant ulnaless (Ul), which has a similar phenotype as MDK. We propose that MDK is caused by duplications that modify the topography of the locus and as such result in deregulation of HOXD gene expression. European Journal of Human Genetics (2010) 18, 1310-1314; doi: 10.1038/ejhg.2010.116; published online 21 July 2010