The Gene for Cherubism Maps to Chromosome 4p16.3

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1999 Jun 12

PMID 10364527

Citations 35

Authors

J Mangion

N Rahman

S Edkins

R Barfoot

T Nguyen

A Sigurdsson

J V Townend

D R Fitzpatrick

A M Flanagan

M R Stratton

Affiliations

Soon will be listed here.

Abstract

Cherubism is a rare familial disease of childhood characterized by proliferative lesions within the mandible and maxilla that lead to prominence of the lower face and an appearance reminiscent of the cherubs portrayed in Renaissance art. Resolution of these bony abnormalities is often observed after puberty. Many cases are inherited in an autosomal dominant fashion, although several cases without a family history have been reported. Using two families with clinically, radiologically, and/or histologically proved cherubism, we have performed a genomewide linkage search and have localized the gene to chromosome 4p16.3, with a maximum multipoint LOD score of 5. 64. Both families showed evidence of linkage to this locus. Critical meiotic recombinants place the gene in a 3-cM interval between D4S127 and 4p-telomere. Within this region a strong candidate is the gene for fibroblast growth factor receptor 3 (FGFR3); mutations in this gene have been implicated in a diverse set of disorders of bone development.

Citing Articles

Thoughts on the Etiology of Cherubism.

Hyckel P, Liehr T J Clin Med. 2024; 13(7).

PMID: 38610846 PMC: 11012468. DOI: 10.3390/jcm13072082.

Surgical management of severe cherubism persisting into early adulthood: a case report and literature review.

Choi Y, Ji J, Kim C, Sung K Arch Craniofac Surg. 2024; 25(1):38-43.

PMID: 38461827 PMC: 10924791. DOI: 10.7181/acfs.2023.00577.

Treatment of Progressive Cherubism during the Second Dental Transitional Phase with Calcitonin.

Meijer E, van den Berg H, Cleven A, Edelenbos E, Schreuder W Case Rep Dent. 2023; 2023:2347855.

PMID: 38020961 PMC: 10653967. DOI: 10.1155/2023/2347855.

Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism.

Deconte D, Correia E, Haubert G, de Souza V, Correia J, Maahs M J Pediatr Genet. 2021; 10(1):63-69.

PMID: 33552642 PMC: 7853913. DOI: 10.1055/s-0040-1705095.

Cherubism as a systemic skeletal disease: evidence from an aggressive case.

Morice A, Joly A, Ricquebourg M, Maruani G, Durand E, Galmiche L BMC Musculoskelet Disord. 2020; 21(1):564.

PMID: 32825821 PMC: 7441549. DOI: 10.1186/s12891-020-03580-z.

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