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JOURNAL ARTICLE

A gene for achondroplasia-hypochondroplasia maps to chromosome 4p

M Le Merrer, F Rousseau, L Legeai-Mallet, J C Landais, A Pelet, J Bonaventure, M Sanak, J Weissenbach, C Stoll, A Munnich
Nature Genetics 1994, 6 (3): 318-21
8012398
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.

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