The gene for cherubism maps to chromosome 4p16.3

American Journal of Human Genetics
J MangionM R Stratton

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.

References

Jul 1, 1978·The British Journal of Oral Surgery·D G Arnott
Apr 1, 1979·Oral Surgery, Oral Medicine, and Oral Pathology·W J Peters
Mar 1, 1992·Oral Surgery, Oral Medicine, and Oral Pathology·G E KaugarsJ A Svirsky
Aug 11, 1991·American Journal of Medical Genetics·M M Cohen, R J Gorlin
Jan 1, 1989·Ophthalmic Plastic and Reconstructive Surgery·M J Hawes
Nov 1, 1989·Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery·Y ZoharY Talmi
Jun 1, 1989·Oral Surgery, Oral Medicine, and Oral Pathology·C DunlapB Barker
Nov 1, 1986·American Journal of Medical Genetics·J M Pina-NetoJ C Voltarelli
Dec 1, 1974·The Journal of Pediatrics·M M Cohen
Oct 1, 1967·Oral Surgery, Oral Medicine, and Oral Pathology·Y RamonJ J Bubis
Jun 1, 1984·The British Journal of Oral & Maxillofacial Surgery·P C ReadeB G Radden
Feb 1, 1981·Oral Surgery, Oral Medicine, and Oral Pathology·T R Kerley, C E Schow
Nov 1, 1993·Oral Surgery, Oral Medicine, and Oral Pathology·N J BettsR F Scott
Jun 1, 1993·International Journal of Oral and Maxillofacial Surgery·C N PenfoldA Ramsay
Jun 1, 1993·Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons·A F Ayoub, S S el-Mofty
Aug 1, 1996·Nature Genetics·H VastardisC E Seidman
Apr 8, 1999·Journal of Clinical Pathology·J SouthgateA M Flanagan

❮ Previous
Next ❯

Citations

Jul 19, 2006·Pediatric Radiology·Vaibhav Jain, Raju Sharma
Oct 9, 2009·Cell and Tissue Research·Claudia Nicolae, Bjorn R Olsen
Mar 29, 2003·Mund-, Kiefer- und Gesichtschirurgie : MKG·M PetschlerH Peters
Mar 2, 2012·Journal of Maxillofacial and Oral Surgery·Divya Mehrotra Nandlal
Oct 3, 2001·Ophthalmology·F ColomboL M Holbach
Aug 9, 2003·International Journal of Pediatric Otorhinolaryngology·Yasar OzkanS Basa
Jul 21, 2001·Ryōikibetsu shōkōgun shirīzu·I Kondo
Dec 13, 2000·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·N Von Wowern
Sep 1, 2007·Current Opinion in Rheumatology·Polly J Ferguson, Hatem I El-Shanti
Dec 7, 2006·BMC Medical Genetics·Cui-Ying Li, Shi-Feng Yu
Jan 3, 2014·Head & Face Medicine·Mario Pérez-SayánsAbel García-García
Jun 1, 2012·Orphanet Journal of Rare Diseases·Ernst J ReichenbergerSteven A Lietman
Jun 1, 2012·Orphanet Journal of Rare Diseases·Maria E PapadakiErnst J Reichenberger
Sep 28, 2013·Clinical and Translational Allergy·Ariane StandingPaul Brogan
Oct 28, 2003·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Yoshimichi ImaiAtsushi Yamada
Mar 25, 2004·AJR. American Journal of Roentgenology·Francesca D BeamanDavid M Menke
Feb 21, 2014·Journal of Indian Society of Periodontology·Shital A HungundChaitra Nagaraja
Mar 14, 2013·Annals of Maxillofacial Surgery·Anthony M Pogrel
Sep 6, 2013·Indian Journal of Pediatrics·Ankur SinghSeema Kapoor
Nov 23, 2006·European Journal of Pediatrics·C I van CapelleA M Flanagan
May 18, 2001·Oral Diseases·M KozakiewiczJ Kobos
Apr 10, 2010·International Journal of Dentistry·Pieter Johannes Slootweg
Nov 28, 2013·Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons·Spyridon TsodoulosChristos Angelopoulos
Nov 5, 2013·Rheumatic Diseases Clinics of North America·Sara M Stern, Polly J Ferguson
Jan 10, 2013·European Journal of Medical Genetics·Trine PrescottJanicke Liaaen Jensen
Oct 23, 2012·Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology·Nuriye DinckanOya Zehra Uyguner
Jan 31, 2007·Revue de stomatologie et de chirurgie maxillo-faciale·A ElfahsiM Kzadri
Jun 18, 2011·International Journal of Oral and Maxillofacial Surgery·R C TeixeiraG Conrads
Apr 14, 2010·Journal of Pediatric Surgery·Ankur Gadodia, Ashu Seith
Oct 20, 2009·Revue de stomatologie et de chirurgie maxillo-faciale·M BrixJ Lebeau
Aug 18, 2009·Revue de stomatologie et de chirurgie maxillo-faciale·I Barthélémy, J-M Mondié
Nov 29, 2008·International Journal of Oral and Maxillofacial Surgery·V V RoginskyR H Khonsari
Dec 20, 2007·Oral and Maxillofacial Surgery Clinics of North America·Guillermo E ChaconMarvin F Jabero
Aug 21, 2007·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·Jan de LangeHenk van den Berg
Jul 28, 2007·Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons·Jan de LangeMarcel Scholtemeijer
Dec 20, 2007·Oral and Maxillofacial Surgery Clinics of North America·Maria E PapadakiLeonard B Kaban
Nov 14, 2006·The Journal of Prosthetic Dentistry·Burak YilmazA Ersan Ersoy
Jul 19, 2008·Histopathology·P J Slootweg
Jun 26, 2012·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·Linda MoskovszkyAdrienne Flanagan
Feb 8, 2005·Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery·Peter HyckelHartwig Kosmehl
Feb 27, 2007·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·Jan de LangeEgbert J W Redeker
Nov 29, 2015·Oral and Maxillofacial Surgery Clinics of North America·Donita DyalramJoshua E Lubek

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

International Journal of Oral and Maxillofacial Surgery
X-M MengG-Y Yu
Journal of Clinical Pathology
J SouthgateA M Flanagan
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics
N Von Wowern
Ryōikibetsu shōkōgun shirīzu
I Kondo
© 2021 Meta ULC. All rights reserved