A novel mutation in the AMELX gene and multiple crown resorptions

Lee K‐E, Lee S‐K, Jung S‐E, Song SJ, Cho SH, Lee ZH, Kim J‐W. A novel mutation in the AMELX gene and multiple crown resorptions. 
Eur J Oral Sci 2011; 119 (Suppl. 1): 324–328. © 2011 Eur J Oral Sci Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders with regard to genetic aeti...

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Published in:European journal of oral sciences 2011-12, Vol.119 (s1), p.324-328
Main Authors: Lee, Kyung-Eun, Lee, Sook-Kyung, Jung, Seung-Eun, Song, Su Jeong, Cho, Sang Hyun, Lee, Zang Hee, Kim, Jung-Wook
Format: Article
Language:English
Subjects:
amelogenesis imperfecta
Amelogenesis Imperfecta - complications
Amelogenesis Imperfecta - genetics
Amelogenin - genetics
AMELX
Child
Codon, Nonsense
crown resorption
Dentistry
DNA Mutational Analysis
enamel
Frameshift Mutation
Humans
Male
Open Bite - complications
Tooth Crown - pathology
Tooth Resorption - genetics
X-linked AI
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Summary:Lee K‐E, Lee S‐K, Jung S‐E, Song SJ, Cho SH, Lee ZH, Kim J‐W. A novel mutation in the AMELX gene and multiple crown resorptions. 
Eur J Oral Sci 2011; 119 (Suppl. 1): 324–328. © 2011 Eur J Oral Sci Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders with regard to genetic aetiology and clinical phenotype and affects tooth enamel with no other non‐oral syndromic conditions. X‐linked AI is caused by mutations in the amelogenin (AMELX) gene, the only AI candidate gene located on the X chromosome. To date, 15 mutations in the AMELX gene have been found to cause AI. We identified a proband with generalized hypoplastic enamel and unusual multiple crown resorption in premolars and molars. Pedigree analysis suggested an X‐linked hereditary pattern. We performed mutational analysis for the AMELX gene based on the candidate gene approach. Sequencing analysis revealed a novel mutation in exon 6 (g.4090delC, c.517delC, p.Pro173LeufsX16). This frameshift mutation produces a premature stop codon within exon 6 and is predicted to replace 33 amino acids at the C‐terminus with 15 novel amino acids if the mutant mRNA escapes the nonsense‐mediated decay system. Although crown resorptions occur frequently in patients with the hypoplastic type of A1, an association with the AMELX mutation has not been previously reported. We believe that these findings will broaden our understanding of the clinical phenotype and pathogenesis of X‐linked AI.
ISSN:0909-8836
1600-0722
DOI:10.1111/j.1600-0722.2011.00858.x