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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1998-02-01

AUTHORS

M. Fujimoto, Piranit Nik Kantaputra, Shiro Ikegawa, Yoshimitsu Fukushima, Shin-ichi Sonta, Masafumi Matsuo, Takafumi Ishida, Tadashi Matsumoto, Shinji Kondo, Hiroaki Tomita, Han-Xiang Deng, Michele D'urso, Maria Michela Rinaldi, Valerio Ventruto, Toshihisa Takagi, Yusuke Nakamura, Norio Niikawa

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 (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. More... »

PAGES

32-36

Journal

TITLE

Journal of Human Genetics

ISSUE

1

VOLUME

43

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s100380050033

DOI

http://dx.doi.org/10.1007/s100380050033

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1001398657

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9609995


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16 schema:description 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 (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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23 schema:keywords Abstract Mesomelic dysplasia Kantaputra type
24 CA-repeat markers
25 CM
26 D2S2188 loci
27 D2S2284
28 Italian family
29 Kantaputra type
30 MDK locus
31 Thai family
32 affected members
33 analysis
34 autosomal dominant skeletal dysplasia
35 balanced translocation
36 breakpoints
37 data
38 deviation
39 dominant skeletal dysplasia
40 dorsolateral foot deviation
41 dwarfism
42 dysplasia
43 dysplasia Kantaputra type
44 family
45 foot deviation
46 forearm/
47 generation
48 genes
49 haplotypes
50 linkage
51 linkage analysis
52 linkage of MDK
53 loci
54 logarithm
55 markers
56 maximum logarithm
57 members
58 mesomelic dysplasia Kantaputra type
59 nearby regions
60 new autosomal dominant skeletal dysplasia
61 odds (LOD) score
62 patients
63 reference
64 region
65 results
66 scores
67 shortening
68 skeletal dysplasia
69 study
70 synostosis
71 tarsal synostosis
72 translocation
73 translocation breakpoints
74 two-point linkage analysis
75 types
76 vicinity
77 vicinity of D2S2284
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