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Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation.
Arch Oral Biol. 2020 Aug; 116:104735.AO

Abstract

Tricho-rhino-phalangeal syndrome type I, an autosomal dominant condition, is caused by heterozygous pathogenic variants in a zinc finger transcription factor, TRPS1, which has important roles in development of endochondral bones, teeth, and hair. Clinical manifestations of the patients include short stature, sparse, fine and slow-growing scalp hair, bulbous nose, supernumerary teeth, hip dysplasia, brachydactyly, and cone-shaped epiphyses of the phalangeal bones.

OBJECTIVE

To clinically, radiographically, and molecular genetically investigate a patient with tricho-rhino-phalangeal syndrome type I.

MATERIALS AND METHODS

Clinical and radiographic examination and mutation analysis of TRPS1 were performed.

RESULTS

Clinical and radiographic examination indicated the patient had tricho-rhino-phalangeal syndrome type I. Sequencing of the TRPS1 gene revealed a heterozygous pathogenic variant (c.2762G>A; p.Arg921Gln). Oral examination showed supernumerary teeth, large dental pulp spaces, dental pulp stones, microdontia of the maxillary permanent lateral incisors, absence of the mandibular left second premolar and short root of the maxillary right second premolar, and hypoplastic mandibular condyles with long condylar necks.

CONCLUSION

TRPS1 has an important function in regulating bone and dentin mineralization. Having large dental pulp spaces suggests that impaired dentin mineralization was the result of the TRPS1 pathogenic variant. This is the first patient with a TRPS1 pathogenic variant who had impaired dentin mineralization. This is also the third report showing the association between TRPS1 pathogenic variants and the presence of supernumerary teeth.

Authors+Show Affiliations

Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand. Electronic address: dentaland17@gmail.com.Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32442662

Citation

Kantaputra, Piranit Nik, et al. "Impaired Dentin Mineralization, Supernumerary Teeth, Hypoplastic Mandibular Condyles With Long Condylar Necks, and a TRPS1 Mutation." Archives of Oral Biology, vol. 116, 2020, p. 104735.
Kantaputra PN, Coury SA, Tan WH. Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation. Arch Oral Biol. 2020;116:104735.
Kantaputra, P. N., Coury, S. A., & Tan, W. H. (2020). Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation. Archives of Oral Biology, 116, 104735. https://doi.org/10.1016/j.archoralbio.2020.104735
Kantaputra PN, Coury SA, Tan WH. Impaired Dentin Mineralization, Supernumerary Teeth, Hypoplastic Mandibular Condyles With Long Condylar Necks, and a TRPS1 Mutation. Arch Oral Biol. 2020;116:104735. PubMed PMID: 32442662.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation. AU - Kantaputra,Piranit Nik, AU - Coury,Stephanie A, AU - Tan,Wen-Hann, Y1 - 2020/05/05/ PY - 2020/01/14/received PY - 2020/03/27/revised PY - 2020/04/21/accepted PY - 2020/5/23/pubmed PY - 2020/5/23/medline PY - 2020/5/23/entrez KW - Abnormal dentin mineralization KW - Abnormal mandibular condyle KW - Dental pulp stone KW - Supernumerary teeth KW - TRPS1 SP - 104735 EP - 104735 JF - Archives of oral biology JO - Arch. Oral Biol. VL - 116 N2 - : Tricho-rhino-phalangeal syndrome type I, an autosomal dominant condition, is caused by heterozygous pathogenic variants in a zinc finger transcription factor, TRPS1, which has important roles in development of endochondral bones, teeth, and hair. Clinical manifestations of the patients include short stature, sparse, fine and slow-growing scalp hair, bulbous nose, supernumerary teeth, hip dysplasia, brachydactyly, and cone-shaped epiphyses of the phalangeal bones. OBJECTIVE: To clinically, radiographically, and molecular genetically investigate a patient with tricho-rhino-phalangeal syndrome type I. MATERIALS AND METHODS: Clinical and radiographic examination and mutation analysis of TRPS1 were performed. RESULTS: Clinical and radiographic examination indicated the patient had tricho-rhino-phalangeal syndrome type I. Sequencing of the TRPS1 gene revealed a heterozygous pathogenic variant (c.2762G>A; p.Arg921Gln). Oral examination showed supernumerary teeth, large dental pulp spaces, dental pulp stones, microdontia of the maxillary permanent lateral incisors, absence of the mandibular left second premolar and short root of the maxillary right second premolar, and hypoplastic mandibular condyles with long condylar necks. CONCLUSION: TRPS1 has an important function in regulating bone and dentin mineralization. Having large dental pulp spaces suggests that impaired dentin mineralization was the result of the TRPS1 pathogenic variant. This is the first patient with a TRPS1 pathogenic variant who had impaired dentin mineralization. This is also the third report showing the association between TRPS1 pathogenic variants and the presence of supernumerary teeth. SN - 1879-1506 UR - https://www.unboundmedicine.com/medline/citation/32442662/Impaired_dentin_mineralization,_supernumerary_teeth,_hypoplastic_mandibular_condyles_with_long_condylar_necks,_and_a_TRPS1_mutation L2 - https://linkinghub.elsevier.com/retrieve/pii/S0003-9969(20)30113-8 DB - PRIME DP - Unbound Medicine ER -
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