Interferon Regulatory Factor 6 (IRF6) and Fibroblast Growth Factor Receptor 1 (FGFR1) Contribute to Human Tooth Agenesis

Alexandre R Vieira; Adriana Modesto; Raquel Meira; Anna Renata Schneider Barbosa; Andrew C Lidral; Jeffrey C Murray

doi:10.1002/ajmg.a.31620

Back

Interferon Regulatory Factor 6 (IRF6) and Fibroblast Growth Factor Receptor 1 (FGFR1) Contribute to Human Tooth Agenesis

Journal article

Open access

Peer reviewed

Interferon Regulatory Factor 6 (IRF6) and Fibroblast Growth Factor Receptor 1 (FGFR1) Contribute to Human Tooth Agenesis

Alexandre R Vieira, Adriana Modesto, Raquel Meira, Anna Renata Schneider Barbosa, Andrew C Lidral and Jeffrey C Murray

American journal of medical genetics. Part A, Vol.143(6), pp.538-545

03/15/2007

DOI: 10.1002/ajmg.a.31620

PMCID: PMC2570343

PMID: 17318851

Files and links (1)

url

https://www.ncbi.nlm.nih.gov/pmc/articles/2570343View

Open Access

Abstract

Phenotypic characteristics expressed in syndromes give clues to the factors involved in the cause of isolated forms of the same defects. We investigated two genes responsible for craniofacial syndromes, FGFR1 and IRF6 , in a collection of families with isolated tooth agenesis. Cheek swab samples were obtained for DNA analysis from 116 case/parent trios. Probands had at least one developmentally missing tooth, excluding third molars. In addition, we studied 89 cases and 50 controls from Ohio to replicate any positive findings. Genotyping was performed by kinetic polymerase chain-reaction or TaqMan assays. Linkage disequilibrium analysis and transmission distortion of the marker alleles were performed. The same variants in the IRF6 gene that are associated with isolated orofacial clefts are also associated with human tooth agenesis (rs861019, P = 0.058; rs17015215—V274I, P = 0.0006; rs7802, P = 0.004). Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. The craniofacial phenotypic characteristics of these syndromes include oral clefts and preferential tooth agenesis of incisors and premolars, besides pits on the lower lips. Also it appears that preferential premolar agenesis is associated with FGFR1 ( P = 0.014) and IRF6 ( P = 0.002) markers. There were statistically significant data suggesting that IRF6 interacts not only with MSX1 ( P = 0.001), but also with TGFA ( P = 0.03).

muscle segment

Van der Woude syndrome

hypodontia

cleft lip and palate

oligodontia

paired-box

PAX9

transforming growth factor alpha

orofacial clefts

TGFA

MSX1

Kallmann syndrome

Details

Title: Subtitle: Interferon Regulatory Factor 6 (IRF6) and Fibroblast Growth Factor Receptor 1 (FGFR1) Contribute to Human Tooth Agenesis
Creators: Alexandre R Vieira - Department of Oral Biology, University of Pittsburgh, Pittsburgh, Pennsylvania
Adriana Modesto - Department of Pediatric Dentistry, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania
Raquel Meira - Department of Pediatric Dentistry, Brazilian Lutheran University, Canoas, RS, Brazil
Anna Renata Schneider Barbosa - Department of Pediatric Dentistry and Orthodontics, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil
Andrew C Lidral - Dows Institute for Dental Research, University of Iowa, Iowa City, Iowa
Jeffrey C Murray - Department of Pediatrics, University of Iowa, Iowa City, Iowa
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.143(6), pp.538-545
DOI: 10.1002/ajmg.a.31620
PMID: 17318851
PMCID: PMC2570343
NLM abbreviation: Am J Med Genet A
ISSN: 1552-4825
eISSN: 1552-4833
Language: English
Date published: 03/15/2007
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025315502771

Metrics

11 Record Views

81 Times Cited - Web of Science