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 g...

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Bibliographic Details
Published in:American journal of human genetics 1999-07, Vol.65 (1), p.158-166
Main Authors: Tiziani, Valdenize, Reichenberger, Ernst, Buzzo, Celso Luiz, Niazi, Sadia, Fukai, Naomi, Stiller, Michael, Peters, Hartmut, Salzano, Francisco M., Raposo do Amaral, Cassio M., Olsen, Bjorn Reino
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Bone resorption
Cherubism
Cherubism - diagnosis
Cherubism - diagnostic imaging
Cherubism - genetics
Child
Chromosome 4p16
Chromosome Mapping
Chromosomes, Human, Pair 4
Craniofacial disorders
Diseases of the osteoarticular system
Female
Genetic Markers
Genotype
Humans
Jaw disorders
Lod Score
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Mandible - diagnostic imaging
Maxilla - anatomy & histology
Maxilla - diagnostic imaging
Medical sciences
Middle Aged
Pedigree
Radiography
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Description
Summary: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 ∼22 cM.
ISSN:0002-9297
1537-6605
DOI:10.1086/302456