Affiliation

¹Department of Experimental and Clinical Physiology, Laboratory of Centre for Preclinical Research, Medical University of Warsaw, Warsaw, Poland
²Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland
³Department of Paediatric Dentistry, Medical University of Warsaw, Warsaw, Poland
⁴Department of Orthodontics, Medical University of Warsaw, Warsaw, Poland
⁵Department of Histology and Embryology, Laboratory of Centre for Preclinical Research, Medical University of Warsaw, Warsaw, Poland

Corresponding Author

Pawel Wlodarski, Department of Histology and Embryology, Laboratory of Centre for Preclinical Research, Medical University of Warsaw, Banacha 1b, 02-097 Warsaw, Poland, Tel: (+48 22) 57 20 206; Fax: (0-22) 57 20 266; E-mail: pawel.wlodarski@wum.edu.pl

Citation

Wlodarski, P., et al. The Impact of the Novel ENAM Mutation on the Development of Hypoplastic Type of Amelogenesis Imperfect. (2018) J Dent Oral Care 4(1): 1- 4.

Copy rights

© 2018 Wlodarski, P. This is an Open access article distributed under the terms of Creative Commons Attribution 4.0 International License.

Keywords

Abstract

  ENAM gene encodes ENAM elin, protein involved in mineralization of ENAMel. It has been previously demonstrated that certain mutations in ENAM gene lead to development of abnormal ENAMel, characteristic for the amelogenesis imperfecta (AI). In this case report we analysed the entire coding sequence of the ENAM gen in 6,5-years old girl diagnosed with ENAMel hypoplasia and suspected AI. Mutations were found in each allele of the ENAM gene p.Lys111Thr/c.332A > C and Leu420_Gly421fs/c.1260_1261insAG. One of these mutations p.Lys111Thr has not been described to date in association with ENAMel disease.