Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22.
Fibrodysplasia ossificans progressiva (FOP) is a very rare disease characterized by congenital malformation of the great toes and progressive heterotopic ossification of muscles. To identify the chromosomal localization of the FOP gene, we conducted a genomewide linkage analysis using seven affected families. The FOP phenotype is linked to markers located in the 17q21-22 region (LOD score of 3.41 at the recombination fraction theta = 0). Crossover events localize the putative FOP gene within a 12cM interval, bordered proximally by D17S809 and distally by D17S1838. Noggin (NOG) gene, located in 17q22, is an excellent candidate gene for FOP.
Lucotte
G
G
Center of Molecular Neurogenetics, Faculty of Medicine, Rheims, France.
Bathelier
C
C
Mercier
G
G
Gérard
N
N
Lenoir
G
G
Sémonin
O
O
Fontaine
K
K
D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009221:Myositis Ossificans / Q000235:genetics*; D010375:Pedigree