S-Space College of Medicine/School of Medicine (의과대학/대학원) Dept. of Biochemistry & Molecular Biology (생화학교실) Journal Papers (저널논문_생화학교실)
A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1
- Cho, Tae-Joon; Kim, Ok-Hwa; Choi, In Ho; Nishimura, Gen; Kim, Kang Suhp; Park, Woong-Yang; Lee, Young-Ju; Superti-Furga, Andrea
- Issue Date
- B M J PUBLISHING GROUP
- JOURNAL OF MEDICAL GENETICS; Vol.47 9; 638-639
- 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.
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