title: A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.
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.
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Cho
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.forename: In Ho
authors.initials: IH
authors.lastname: Choi
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: Kang Suhp
authors.initials: KS
authors.lastname: Kim
authors.forename: Young-Ju
authors.initials: YJ
authors.lastname: Lee
authors.forename: Woong-Yang
authors.initials: WY
authors.lastname: Park
mesh_terms: D000328:Adult; D020029:Base Pairing / Q000235:genetics*; D002675:Child, Preschool; D058674:Chromosome Duplication / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005190:Family; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D005810:Multigene Family / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography
chemical_list: D018398:Homeodomain Proteins