Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations
| العنوان: | Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations |
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| المؤلفون: | M. Koruyucu, J. Kang, Y.J. Kim, F. Seymen, Y. Kasimoglu, Z.H. Lee, T.J. Shin, H.K. Hyun, S.H. Lee, J.C.C. Hu, J.P. Simmer, J.W. Kim |
| المصدر: | Journal of Dental Research. 97:1064-1069 |
| بيانات النشر: | SAGE Publications, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, Proband, Turkey, Amelogenesis Imperfecta, Nonsense mutation, 030105 genetics & heredity, Biology, medicine.disease_cause, Polymerase Chain Reaction, Consanguinity, Young Adult, 03 medical and health sciences, stomatognathic system, Exome Sequencing, medicine, Humans, Amelogenesis imperfecta, Child, General Dentistry, Exome sequencing, Genetics, Extracellular Matrix Proteins, Mutation, Genetic disorder, Research Reports, medicine.disease, Penetrance, Pedigree, stomatognathic diseases, Phenotype, Female, ENAM |
| الوصف: | 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. |
| تدمد: | 1544-0591 0022-0345 |
| DOI: | 10.1177/0022034518763152 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1de20f02c38712d68e239d584d3548b0 https://doi.org/10.1177/0022034518763152 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....1de20f02c38712d68e239d584d3548b0 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15440591 00220345 |
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| DOI: | 10.1177/0022034518763152 |