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.
Service de Génétique, Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U. 393, Paris, France.
M
M
Le Merrer
F
F
Rousseau
L
L
Legeai-Mallet
J C
JC
Landais
A
A
Pelet
J
J
Bonaventure
M
M
Sanak
J
J
Weissenbach
C
C
Stoll
A
A
Munnich
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