A gene for achondroplasia-hypochondroplasia maps to chromosome 4p

M Le Merrer¹, F Rousseau, L Legeai-Mallet

¹Service de Génétique, Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U. 393, Paris, France.

|March 1, 1994

Abstract:

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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Abstract:

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