J Med Genet. 2010 Sep;47(9):638-9. doi: 10.1136/jmg.2009.074690. Epub 2010 Jun 24.
A three-generation family with four patients affected by a novel mesomelic dysplasia was investigated for genome-wide DNA copy number variation profiles. This revealed a microduplication of a 1.0-Mb chromosomal segment at 2q31.1 spanning nine Homeo box D (HOXD) genes that co-segregated with the phenotype. Quantitative PCR analysis of a gene within this duplicated region showed consistent results. Mesomelic dysplasia Kantaputra type (MDK; MIM 156232),which shares some phenotypes with this family, has also been mapped to a chromosomal region comprising 2q31.1, raising the possibility that MDK and the condition observed in this family may be allelic.
一个三代同堂的家族中共有 4 位患者受到一种新型中胚层发育不良的影响，对他们进行了全基因组 DNA 拷贝数变异谱分析。结果显示，在 2q31.1 染色体上存在一个 1.0-Mb 的微重复片段，跨越 9 个同源盒 D (HOXD) 基因，与表型共分离。对该重复区域内一个基因的定量 PCR 分析结果一致。Kantaputra 型中胚层发育不良（MDK；MIM 156232）与该家系具有一些共同表型，也被定位在包含 2q31.1 的染色体区域内，这增加了 MDK 和该家系所观察到的疾病可能为等位基因的可能性。
