Am J Hum Genet. 1999 Jul;65(1):151-7.

The gene for cherubism maps to chromosome 4p16.3.

Mangion J, Rahman N, Edkins S, Barfoot R, Nguyen T, Sigurdsson A, Townend JV, Fitzpatrick DR, Flanagan AM, Stratton MR.

Source

Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom.

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.

PMID:: 10364527; [PubMed - indexed for MEDLINE]
PMCID:: PMC1378085

Free PMC Article

Publication Types, MeSH Terms, Substances

Publication Types

Research Support, Non-U.S. Gov't

MeSH Terms

Substances

Genetic Markers

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Medical

Supplemental Content

Save items

Related citations in PubMed

The gene for cherubism maps to chromosome 4p16. [Am J Hum Genet. 1999]
The gene for cherubism maps to chromosome 4p16.
Tiziani V, Reichenberger E, Buzzo CL, Niazi S, Fukai N, Stiller M, Peters H, Salzano FM, Raposo do Amaral CM, Olsen BR. Am J Hum Genet. 1999 Jul; 65(1):158-66.
[Clinical and molecular genetic observations on families with cherubism over three generations]. [Mund Kiefer Gesichtschir. 2003]
[Clinical and molecular genetic observations on families with cherubism over three generations].
Petschler M, Stiller M, Hoffmeister B, Witkowski R, Opitz C, Bill JS, Peters H. Mund Kiefer Gesichtschir. 2003 Mar; 7(2):83-7. Epub 2003 Jan 11.
Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35. [Am J Hum Genet. 2001]
Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35.
Hocking LJ, Herbert CA, Nicholls RK, Williams F, Bennett ST, Cundy T, Nicholson GC, Wuyts W, Van Hul W, Ralston SH. Am J Hum Genet. 2001 Nov; 69(5):1055-61. Epub 2001 Sep 5.
A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. [Am J Hum Genet. 1999]
A new locus for autosomal dominant stargardt-like disease maps to chromosome 4.
Kniazeva M, Chiang MF, Morgan B, Anduze AL, Zack DJ, Han M, Zhang K. Am J Hum Genet. 1999 May; 64(5):1394-9.
A study of chromosome 4p markers and dopamine D5 receptor gene in schizophrenia and bipolar disorder. [Mol Psychiatry. 1998]
A study of chromosome 4p markers and dopamine D5 receptor gene in schizophrenia and bipolar disorder.
Asherson P, Mant R, Williams N, Cardno A, Jones L, Murphy K, Collier DA, Nanko S, Craddock N, Morris S, et al. Mol Psychiatry. 1998 Jul; 3(4):310-20.

See reviews... See all...

Cited by 5 PubMed Central articles

Cherubism: case report with review of literature. [J Maxillofac Oral Surg. 2011]
Cherubism: case report with review of literature.
Mehrotra D, Kesarwani A, Nandlal. J Maxillofac Oral Surg. 2011 Mar; 10(1):64-70. Epub 2011 Mar 22.
Clinical and surgical management of an aggressive cherubism treated with autogenous bone graft and calcitonin. [ISRN Dent. 2011]
Clinical and surgical management of an aggressive cherubism treated with autogenous bone graft and calcitonin.
Fernandes Gomes M, Ferraz de Brito Penna Forte L, Hiraoka CM, Augusto Claro F, Costa Armond M. ISRN Dent. 2011; 2011:340960. Epub 2010 Oct 17.
Cherubism combined with epilepsy, mental retardation and gingival fibromatosis (Ramon syndrome): a case report. [Head Neck Pathol. 2010]
Cherubism combined with epilepsy, mental retardation and gingival fibromatosis (Ramon syndrome): a case report.
Suhanya J, Aggarwal C, Mohideen K, Jayachandran S, Ponniah I. Head Neck Pathol. 2010 Jun; 4(2):126-31. Epub 2009 Dec 11.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide
Primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
UniSTS
Genetic, physical, and sequence mapping reagents in the UniSTS database associated with the current articles through references on sequence tagged site (STS) submissions as well as automated searching of PubMed abstracts and full-text PubMed Central articles for marker names.
Protein
Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

The gene for cherubism maps to chromosome 4p16.3.
The gene for cherubism maps to chromosome 4p16.3.
Am J Hum Genet. 1999 Jul ;65(1):151-7.

PubMed
Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a ...
Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.
Am J Hum Genet. 1999 Jul ;65(1):77-87.

PubMed
Prolactin controls mammary gland development via direct and indirect mechanisms.
Prolactin controls mammary gland development via direct and indirect mechanisms.
Dev Biol. 1999 Jun 1 ;210(1):96-106.

PubMed
Identification of biased amino acid substitution patterns in human immunodeficie...
Identification of biased amino acid substitution patterns in human immunodeficiency virus type 1 isolates from patients treated with protease inhibitors.
J Virol. 1999 Jul ;73(7):6197-202.

PubMed
Replication and pathogenicity of primer binding site mutants of SL3-3 murine leu...
Replication and pathogenicity of primer binding site mutants of SL3-3 murine leukemia viruses.
J Virol. 1999 Jul ;73(7):6117-22.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: