Related Experiment Video
Updated: Jun 28, 2026
07:26
Systematic Assessment of Mammalian Skull Specimens for Dental and Temporomandibular Joint Pathology
Published on: August 22, 2022
Tricho-rhino-phalangeal syndrome with supernumerary teeth
P Kantaputra1, I Miletich, H-J Lüdecke
1Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Thailand.
Journal of Dental Research
|October 24, 2008
Summary
Tricho-rhino-phalangeal syndromes (TRPS) involve the TRPS1 gene. This study found TRPS1 expression during tooth development and a mutation in a patient with TRPS and extra teeth, suggesting TRPS1
Area of Science:
- Genetics and Molecular Biology
- Developmental Biology
- Craniofacial Development
Background:
- Tricho-rhino-phalangeal syndromes (TRPS) are genetic disorders linked to the TRPS1 gene, affecting hair, facial features, and bones.
- Supernumerary teeth (extra teeth) are rare in TRPS patients, with limited molecular investigation.
- The TRPS1 gene encodes a GATA transcription factor crucial for development.
Purpose of the Study:
- To investigate the role of TRPS1 in tooth development.
- To examine the expression pattern of TRPS1 during murine tooth development.
- To analyze craniofacial defects in Trps1 mutant mice and investigate TRPS1 mutations in a patient with TRPS and supernumerary teeth.
Main Methods:
- Studied the expression of Tprs1 during mouse tooth development.
- Analyzed craniofacial defects in Trps1 mutant mice.
- Sequenced the TRPS1 gene in a 17-year-old Thai male with TRPS and supernumerary teeth.
Main Results:
- Trps1 is expressed during key stages of mouse tooth development.
- Trps1 mutant mice exhibit craniofacial abnormalities.
- A patient with TRPS and supernumerary teeth presented with an A919V amino acid substitution in the TRPS1 GATA zinc finger.
Conclusions:
- TRPS1 plays a role in mammalian tooth morphogenesis.
- Mutations in TRPS1 may contribute to dental anomalies, including supernumerary teeth, in TRPS patients.
- Further research is warranted to elucidate the precise mechanisms of TRPS1 in craniofacial and dental development.
Related Concept Videos
01:15Teeth
The formation of teeth, also known as odontogenesis, is a complex process that begins in utero, around the sixth week of embryonic development. There are three stages to this process: the bud stage, the cap stage, and the bell stage.
In the bud stage, the tooth germ (an aggregation of cells) starts to form in the developing jawbone. During the cap stage, the tooth germ differentiates into enamel organ, dental papilla, and dental sac, which will later develop into the tooth's enamel, dentin and...
In the bud stage, the tooth germ (an aggregation of cells) starts to form in the developing jawbone. During the cap stage, the tooth germ differentiates into enamel organ, dental papilla, and dental sac, which will later develop into the tooth's enamel, dentin and...
01:21Tooth Anatomy
The human tooth enables us to eat a variety of foods, speak clearly, and even aid in shaping our faces. Teeth are composed of various elements that work together. Here's a detailed look at the anatomy of a human tooth.
The Crown, Neck, and Root
The visible part of the tooth is referred to as the crown. It's covered by enamel, the hardest substance in the human body. The crown is uniquely shaped for each type of tooth, allowing for different functions such as cutting, tearing, or grinding food.
The Crown, Neck, and Root
The visible part of the tooth is referred to as the crown. It's covered by enamel, the hardest substance in the human body. The crown is uniquely shaped for each type of tooth, allowing for different functions such as cutting, tearing, or grinding food.
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:23Chronic Pharyngitis
Chronic pharyngitis refers to persistent inflammation of the pharyngial mucosa.
Etiology
It often arises from persistent viral or bacterial infections affecting sinuses and tonsils.
Additional contributing factors include inadequate dental hygiene, mouth breathing, recurring tonsillitis, allergic rhinitis, laryngopharyngeal reflux, and exposure to smoke, chemicals, and other environmental pollutants. Allergic reactions to pollen, mold, and pet dander, chronic cough, excessive voice usage,...
Etiology
It often arises from persistent viral or bacterial infections affecting sinuses and tonsils.
Additional contributing factors include inadequate dental hygiene, mouth breathing, recurring tonsillitis, allergic rhinitis, laryngopharyngeal reflux, and exposure to smoke, chemicals, and other environmental pollutants. Allergic reactions to pollen, mold, and pet dander, chronic cough, excessive voice usage,...
01:27Diversity of Protists III
Rhizaria are a diverse group of unicellular protists characterized by their threadlike cytoplasmic extensions known as pseudopodia. These structures aid in both locomotion and feeding, giving Rhizaria an amoeboid appearance. Their amoeboid morphology once led to taxonomic confusion, but molecular phylogenetics has clarified their evolutionary placement and emphasized their shared use of pseudopodia despite divergent lineages.This clade comprises diverse lineages such as Chlorarachniophyta,...