作者: S. Ruf , D. Klimas , M. Hönemann , S. Jabir
DOI: 10.1007/S00056-013-0138-Z
关键词: Internal medicine 、 Gene mutation 、 Meta-analysis 、 Oligodontia 、 PAX9 、 Medicine 、 Agenesis 、 EDARADD 、 Anodontia 、 Genotype
摘要: The goal of this work was to identify all known gene mutations that have been associated with the development nonsyndromic oligodontia. A systematic literature search performed electronically in two databases (PubMed, Medpilot) supplemented by a hand search. Articles published up March 2012 were considered. Search terms combined as follows: oligodontia and genes, mutations, tooth agenesis mutations. meta-analysis data conducted based on Tooth Agenesis Code (TAC). Seven genes are currently potential for causing All these vary both number identified documented patients: 33 mutations 93 patients record PAX9, 10 mutations 51 patients EDA, 12 mutations 33 patients MSX1, 6 mutations 17 patients AXIN2, 1 mutation 1 patient EDARADD, NEMO, KRT17 each. total TAC score 250 found cutoff properties, 100% MSX1 80% EDA patients exhibited ≤250, whereas 96.9% PAX9 90% AXIN2 >250. Furthermore, 94.3% but only 28.6% odd-numbered scores at least one quadrant, 72.7% none show 112 quadrant. In order decreasing frequency, seven enabled us an association between phenotypes genotypes covered meta-analysis.