The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.

Abstract

Mesomelic dysplasia Kantaputra type (MDK) (MIM *156232) is a new autosomal dominant skeletal dysplasia characterized by dwarfism, shortening of the forearms/lower-legs, carpal/tarsal synostosis, and dorsolateral foot deviation. We studied a Thai family in which 15 members in 3 generations were affected with MDK. With reference to the breakpoints of a balanced translocation [t(2;8)(q31;p21)] in patients from a previously reported Italian family with a skeletal dysplasia that appears similar to MDK, a linkage analysis was performed in the Thai family using 50 CA-repeat markers mapped to nearby regions (2q22-q34 and 8p24-p21) of the translocation breakpoints. The results clearly ruled out a linkage of MDK to marker loci at the 8p24-p21 region, whereas all nine affected members available for the study shared a haplotype at four loci (D2S2284, D2S326, D2S2188, and D2S2314) spanning about 22.7 cM in the 2q24-q32 region. The computer-assisted two-point linkage analysis revealed maximum logarithm of odds (lod) scores of 4.82, 4.21, 4.82, and 4.21 (theta = 0) at these loci, respectively. These data indicated that the MDK locus is in the vicinity of D2S2284 and D2S2188 loci that are most likely mapped to 2q24-q32.

• Authors: M Fujimoto, P N Kantaputra, S Ikegawa, Y Fukushima, S Sonta, M Matsuo, T Ishida, T Matsumoto, S Kondo, H Tomita, H X Deng, M D'urso, M M Rinaldi, V Ventruto, T Takagi, Y Nakamura, N Niikawa
• Journal: Journal of human genetics (J Hum Genet) Vol. 43 Issue 1 Pg. 32-6 ( 1998) ISSN: 1434-5161 [Print] England
• PMID: 9609995 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Chromosome Mapping
• Chromosomes, Human, Pair 2 (genetics)
• Dwarfism (genetics)
• Female
• Genes, Dominant
• Genetic Linkage
• Haplotypes
• Humans
• Male
• Pedigree