A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.
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.
Cho
Tae-Joon
TJ
Kim
Ok-Hwa
OH
Choi
In Ho
IH
Nishimura
Gen
G
Superti-Furga
Andrea
A
Kim
Kang Suhp
KS
Lee
Young-Ju
YJ
Park
Woong-Yang
WY
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
D018398:Homeodomain Proteins