Please use this identifier to cite or link to this item: http://cmuir.cmu.ac.th/jspui/handle/6653943832/49718
Title: The smallest teeth in the world are caused by mutations in the PCNT gene
Authors: Piranit Kantaputra
Pranoot Tanpaiboon
Thantrira Porntaveetus
Atsushi Ohazama
Paul Sharpe
Anita Rauch
Atiwat Hussadaloy
Christian T. Thiel
Keywords: Biochemistry, Genetics and Molecular Biology
Medicine
Issue Date: 1-Jun-2011
Abstract: We report a follow up study on two MOPD II Thai families with severe dental anomalies and hypoplastic alveolar bone. Striking dental anomalies comprise severe microdontia, opalescent and abnormally shaped teeth, and rootless molars. As a result of severe hypoplastic alveolar bone, most permanent teeth have been lost. Mutation analysis of PCNT revealed 2 novel mutations (p.Lys3154del and p.Glu1154X) and a recurrent mutation (p.Pro1923X). Teeth of the patient who carried a homozygous novel mutation of p.Glu1154X are probably the smallest ever reported. The sizes of the mandibular permanent incisors and all premolars were approximately 2-2.5mm, mesiodistally. All previously reported, PCNT mutations have been described to cause premature truncation of the pericentrin protein. p.Lys3154del mutation was unique as it was pathogenic as a result of missing only a single amino acid. In situ hybridization of Pcnt shows its expression in the epithelium and mesenchyme during early stages of rodent tooth development. It is evident that PCNT has crucial role in tooth development. The permanent dentition is more severely affected than the one. This implies that PCNT appears to have more role in the development of the permanent dentition. As pericentrin is a critical centrosomal protein, the dental phenotype found in MOPD II patients is postulated to be the consequence of loss of microtubule integrity which leads to defective centrosome function. © 2011 Wiley-Liss, Inc.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=79956225509&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/49718
ISSN: 15524833
15524825
Appears in Collections:CMUL: Journal Articles

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