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A novel de novo mutation in LAMB3 causes localized hypoplastic enamel in the molar region

Cited 7 time in Web of Science Cited 7 time in Scopus
Authors
Kim, Young-Jae; Shin, Teo J.; Hyun, Hong-Keun; Lee, Sang-Hoon; Lee, Zang H.; Kim, Jung-Wook
Issue Date
2016-08
Publisher
WILEY-BLACKWELL
Citation
EUROPEAN JOURNAL OF ORAL SCIENCES Vol.124 No.4, pp. 403-405
Keywords
enamelgenetic diseaseshereditaryLAMB3mutation
Abstract
Amelogenesis imperfecta (AI) is a collection of diseases characterized by hereditary enamel defects and is heterogeneous in genetic etiology and clinical phenotype. In this study, we recruited a nuclear AI family with a proband having unique irregular hypoplastic pits and grooves in all surfaces of the deciduous molar teeth but not in the deciduous anterior teeth. Based on the candidate gene approach, we screened the laminin subunit beta 3 (LAMB3) gene and identified a novel de novo mutation in the proband. The mutation was a frameshift mutation caused by a heterozygous 7-bp deletion in the last exon (c.3452_3458delAGAAGCG, p.Glu1151Valfs*57). This study not only expands the mutational spectrum of the LAMB3 gene causing isolated AI but also broadens the understanding of genotype-phenotype correlations.
ISSN
0909-8836
Language
English
URI
http://hdl.handle.net/10371/116879
DOI
https://doi.org/10.1111/eos.12280
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College of Dentistry/School of Dentistry (치과대학/치의학대학원)Dept. of Dentistry (치의학과)Journal Papers (저널논문_치의학과)
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