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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.

Achondroplasia (ACH) is a frequent condition of unknown origin characterized by short-limbed dwarfism and macrocephaly. Milder forms, termed hypochondroplasias (HCH) result in short stature with radiological features similar to those observed in ACH. We report on the mapping of a gene causing ACH/HCH to human chromosome 4p16.3, by linkage to the iduronidase A (IDUA) locus, in 15 informative families (Z max = 3.01 at theta = 0 for ACH; Z max = 4.71 at theta = 0 for ACH/HCH). Multipoint linkage analysis provides evidence for mapping the disease locus telomeric to D4S412 (location score in log 10 = 4.60). Moreover, this study supports the view that ACH and HCH are genetically homogeneous in our series.[1]

References

  1. A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. Le Merrer, M., Rousseau, F., Legeai-Mallet, L., Landais, J.C., Pelet, A., Bonaventure, J., Sanak, M., Weissenbach, J., Stoll, C., Munnich, A. Nat. Genet. (1994) [Pubmed]
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