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

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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 (θ = 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.

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Received: November 27, 1997 / Accepted: December 5, 1997

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Fujimoto, M., Kantaputra, P., Ikegawa, S. et al. The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32. J Hum Genet 43, 32–36 (1998) doi:10.1007/s100380050033

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  • Key words Mesomelic dysplasia Kantaputra type
  • CA-repeat marker
  • Linkage analysis
  • Logarithm of odds (lod) score
  • Haplotype analysis
  • Human HOXD genes

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