التفاصيل البيبلوغرافية
| العنوان: |
Novel LRP6 Mutations Causing Non-Syndromic Oligodontia |
| المؤلفون: |
Lee, Yejin, Chae, Wonseon, Kim, Youn Jung, Kim, Jung-Wook |
| المساهمون: |
Kim, Jung-Wook |
| بيانات النشر: |
MDPI AG |
| سنة النشر: |
2022 |
| المجموعة: |
Seoul National University: S-Space |
| الوصف: |
The process of tooth formation is a series of reciprocal interactions between the ectoderm and mesoderm, and it is believed that many genetic factors are involved in this complex process. More than a dozen genes have been identified in non-syndromic tooth agenesis; however, the genetic etiology underlying tooth agenesis is not fully understood yet. In this study, we identified two novel LRP6 mutations in two non-syndromic oligodontia families. Both probands had 16 and 17 missing teeth in their permanent dentition. Mutational analysis identified a de novo frameshift mutation by a 1-bp insertion in exon 9 (NM_002336.2: c.1870dupA, p.(Met624Asnfs*29)) and a splicing donor site mutation in intron 8 (c.1762+2T>C). An in vitro splicing assay confirmed the deletion of exon 8, and the deletion would result in a frameshift. Due to the premature termination codons introduced by the frameshift, both mutant transcripts would be degraded by nonsense-mediated mRNA decay, resulting in haploinsufficiency. ; N ; 1 |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
unknown |
| تدمد: |
2075-4426 |
| Relation: |
Journal of Personalized Medicine, Vol.12 No.9, p. 1401; https://hdl.handle.net/10371/186645; 000857090400001; 2-s2.0-85138665908; 172562 |
| الاتاحة: |
https://hdl.handle.net/10371/186645 |
| رقم الانضمام: |
edsbas.4C19D1D1 |
| قاعدة البيانات: |
BASE |
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