Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.
J Dent Res
; 97(9): 1064-1069, 2018 08.
Article
en En
| MEDLINE
| ID: mdl-29554435
ABSTRACT
Tooth enamel, the hardest tissue in the human body, is formed after a complex series of interactions between dental epithelial tissue and the underlying ectomesenchyme. Nonsyndromic amelogenesis imperfecta (AI) is a rare genetic disorder affecting tooth enamel without other nonoral symptoms. In this study, we identified 2 novel ENAM mutations in 2 families with hypoplastic AI by whole exome sequencing. Family 1 had a heterozygous splicing donor site mutation in intron 4, NM_031889; c.123+2T>G. Affected individuals had hypoplastic enamel with or without the characteristic horizontal hypoplastic grooves in some teeth. Family 2 had a nonsense mutation in the last exon, c.1842C>G, p.(Tyr614*), that was predicted to truncate the protein by 500 amino acids. Participating individuals had at least 1 mutant allele, while the proband had a homozygous mutation. Most interestingly, the clinical phenotype of the individuals harboring the heterozygous mutation varied from a lack of penetrance to a mild hypoplastic enamel defect. We believe that these findings will broaden our understanding of the clinical phenotype of AI caused by ENAM mutations.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas de la Matriz Extracelular
/
Amelogénesis Imperfecta
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Child
/
Female
/
Humans
País/Región como asunto:
Asia
Idioma:
En
Revista:
J Dent Res
Año:
2018
Tipo del documento:
Article
País de afiliación:
Turquía