Acromesomelic dysplasia Maroteaux type maps to human chromosome 9

Am J Hum Genet. 1998 Jul;63(1):155-62. doi: 10.1086/301917.


Acromesomelic dysplasias are skeletal disorders that disproportionately affect the middle and distal segments of the appendicular skeleton. We report genetic mapping studies in four families with acromesomelic dysplasia Maroteaux type (AMDM), an autosomal recessive osteochondrodysplasia. A peak LOD score of 5.1 at recombination fraction 0 was obtained with fully informative markers on human chromosome 9. In three of the four families, the affected offspring are products of consanguineous marriages; if it is assumed that these affected offspring are homozygous by descent for the region containing the AMDM locus, a 6.9-cM AMDM candidate interval can be defined by markers D9S1853 and D9S1874. The mapping of the AMDM locus to human chromosome 9 indicates that AMDM is genetically distinct from the two other mapped acromesomelic dysplasias, Hunter-Thompson type and Grebe type, which are caused by mutations in CDMP1 on human chromosome 20.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Bone and Bones / abnormalities
  • Bone and Bones / diagnostic imaging
  • Chromosome Mapping
  • Chromosomes, Human, Pair 9 / genetics*
  • Consanguinity
  • Female
  • Genetic Linkage / genetics*
  • Genotype
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats / genetics
  • Osteochondrodysplasias / classification
  • Osteochondrodysplasias / genetics*
  • Pedigree
  • Radiography