A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1

作者：Cho Tae Joon; Kim Ok Hwa; Choi In Ho; Nishimura Gen; Superti Furga Andrea; Kim Kang Suhp; Lee Young Ju; Park Woong Yang^*

来源：Journal of Medical Genetics, 2010, 47(9): 638-639.

DOI：10.1136/jmg.2009.074690

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.

• 出版日期2010-9