RGD Reference Report - PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. - Rat Genome Database

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PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.

Authors: Decker, Eva  Stellzig-Eisenhauer, Angelika  Fiebig, Britta S  Rau, Christiane  Kress, Wolfram  Saar, Kathrin  Rüschendorf, Franz  Hubner, Norbert  Grimm, Tiemo  Weber, Bernhard H F 
Citation: Decker E, etal., Am J Hum Genet. 2008 Dec;83(6):781-6. doi: 10.1016/j.ajhg.2008.11.006.
RGD ID: 12910708
Pubmed: PMID:19061984   (View Abstract at PubMed)
PMCID: PMC2668057   (View Article at PubMed Central)
DOI: DOI:10.1016/j.ajhg.2008.11.006   (Journal Full-text)

Tooth eruption is a complex developmental process requiring coordinated navigation through alveolar bone and oral epithelium. Primary failure of tooth eruption (PFE) is associated with several syndromes primarily affecting skeletal development, but it is also known as a nonsyndromic autosomal-dominant condition. Teeth in the posterior quadrants of the upper and lower jaw are preferentially affected and usually result in an open bite extending from anterior to posterior. In this study, we show that familial, nonsyndromic PFE is caused by heterozygous mutations in the gene encoding the G protein-coupled receptor for parathyroid hormone and parathyroid hormone-like hormone (PTHR1). Three distinct mutations, namely c.1050-3C > G, c.543+1G > A, and c.463G > T, were identified in 15 affected individuals from four multiplex pedigrees. All mutations truncate the mature protein and therefore should lead to a functionless receptor, strongly suggesting that haplo-insufficiency of PTHR1 is the underlying cause of nonsyndromic PFE. Although complete inactivation of PTHR1 is known to underlie the autosomal-recessive Blomstrand osteochondrodysplasia (BOCD), a lethal form of short-limbed dwarfism, our data now imply that dominantly acting PTHR1 mutations that lead to haplo-insufficiency of the receptor result in a nonsyndromic phenotype affecting tooth development with high penetrance and variable expressivity.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
primary failure of tooth eruption  IAGP 12910708DNA:nonsense mutation more ...RGD 
primary failure of tooth eruption  ISOPTH1R (Homo sapiens)12910708; 12910708DNA:nonsense mutation more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pth1r  (parathyroid hormone 1 receptor)

Genes (Mus musculus)
Pth1r  (parathyroid hormone 1 receptor)

Genes (Homo sapiens)
PTH1R  (parathyroid hormone 1 receptor)


Additional Information