The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.
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.
Fujimoto
M
M
Department of Human Genetics, Nagasaki University School of Medicine, Japan. f1144@cc.nagasaki-u.ac.jp
Kantaputra
P N
PN
Ikegawa
S
S
Fukushima
Y
Y
Sonta
S
S
Matsuo
M
M
Ishida
T
T
Matsumoto
T
T
Kondo
S
S
Tomita
H
H
Deng
H X
HX
D'urso
M
M
Rinaldi
M M
MM
Ventruto
V
V
Takagi
T
T
Nakamura
Y
Y
Niikawa
N
N
D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree