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Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.


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.

SUBMITTER: Koruyucu M 

PROVIDER: S-EPMC6055254 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature

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Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.

Koruyucu M M   Kang J J   Kim Y J YJ   Seymen F F   Kasimoglu Y Y   Lee Z H ZH   Shin T J TJ   Hyun H K HK   Kim Y J YJ   Lee S H SH   Hu J C C JCC   Simmer J P JP   Kim J W JW  

Journal of dental research 20180319 9


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. A  ...[more]

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