The gene for cherubism maps to chromosome 4p16.
Cherubism is an autosomal dominant disorder that may be related to tooth development and eruption. It is a disorder of age-related bone remodeling, mostly limited to the maxilla and the mandible, with loss of bone in the jaws and its replacement with large amounts of fibrous tissue. We have used a genomewide search with a three-generation family and have established linkage to chromosome 4p16. Three other families affected with cherubism were also genotyped and were mapped to the same locus. The combined LOD score is 4.21 at a recombination fraction of 0, and the locus spans an interval of approximately 22 cM.
Tiziani
V
V
Department of Cell Biology, Harvard Medical School and Harvard-Forsyth Boston, MA, USA. vtiziani@warren.med.harvard.edu
Reichenberger
E
E
Buzzo
C L
CL
Niazi
S
S
Fukai
N
N
Stiller
M
M
Peters
H
H
Salzano
F M
FM
Raposo do Amaral
C M
CM
Olsen
B R
BR
D000293:Adolescent; D000328:Adult; D002636:Cherubism / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D008334:Mandible / Q000000981:diagnostic imaging; D008437:Maxilla / Q000033:anatomy & histology / Q000000981:diagnostic imaging; D008875:Middle Aged; D010375:Pedigree; D011859:Radiography
D005819:Genetic Markers