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.
Le Merrer
M
M
Service de Génétique, Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U. 393, Paris, France.
Rousseau
F
F
Legeai-Mallet
L
L
Landais
J C
JC
Pelet
A
A
Bonaventure
J
J
Sanak
M
M
Weissenbach
J
J
Stoll
C
C
Munnich
A
A
D000130:Achondroplasia / Q000235:genetics*; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007068:Iduronidase / Q000235:genetics; D008297:Male; D010375:Pedigree
D005819:Genetic Markers; D007068:Iduronidase