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A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1
Cited 16 time in
Web of Science
Cited 18 time in Scopus
- Authors
- Issue Date
- 2010-09
- Publisher
- B M J PUBLISHING GROUP
- Citation
- JOURNAL OF MEDICAL GENETICS; Vol.47 9; 638-639
- 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.
- ISSN
- 0022-2593
- Language
- English
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