Article: article from journal or magazin.
Letter (letter): Communication to the publisher.
A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.
Journal of Medical Genetics
Publication types: Letter ; Research Support, Non-U.S. Gov't
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.
Adult, Base Pairing/genetics, Child, Preschool, Chromosome Duplication/genetics, Chromosomes, Human, Pair 2/genetics, Family, Female, Genes, Dominant/genetics, Genetic Predisposition to Disease, Homeodomain Proteins/genetics, Humans, Infant, Male, Middle Aged, Multigene Family/genetics, Osteochondrodysplasias/genetics, Osteochondrodysplasias/radiography, Pedigree
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