The Impact of the Novel ENAM Mutation on the Development of Hypoplastic Type of Amelogenesis Imperfect

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.