A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1. Issue 9 (24th June 2010)

• Record Type: Journal Article
• Authors: Cho, Tae-Joon; Kim, Ok-Hwa; Choi, In Ho; Nishimura, Gen; Superti-Furga, Andrea; Kim, Kang Suhp; Lee, Young-Ju; Park, Woong-Yang
• Is Part Of: Journal of medical genetics. Volume 47:Issue 9(2010)
• Page Start: 638
• Page End: 639
• Publication Date: 2010-06-24
• Subjects: Diagnosis -- calcium and bone -- clinical genetics -- molecular genetics; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2009.074690
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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.