Abstract:
En
|
Text:
En
|
PDF:
En
Abstract Hypertrichosis and dental anomalies may occur alone or in combination in the spectrum of many syndromes. To identify genetic entities characterized by hypertrichosis and dental anomalies, a search was performed in the Mendelian Inheritance in Man database with the terms “hypertrichosis” or “hirsutism” and “tooth” or “dental abnormalities.” Nondependent androgen metabolism disturbances were classified as hypertrichosis. Genetic entities with hypertrichosis and dental anomalies were included in the study. Additional searches were performed in the PubMed and Orphanet databases, when necessary, in order to include data from scientific articles. An integrative analysis of the genes associated with the identified syndromes was conducted using STRING to characterize biological processes, pathways, and interactive networks. The p-values were subjected to the false discovery rate for the correction of multiple tests. Thirty-nine syndromes were identified, and dental agenesis was the most frequent dental anomaly present in 41.02% (n = 16) of the syndromes. Causative genes were identified in 33 out of 39 genetic syndromes. Among them, 39 genes were identified, and 38 were analyzed by STRING, which showed 148 biological processes and three pathways that were statistically significant. The most significant biological processes were the disassembly of the nucleosome (GO:0006337, p = 1.09e-06), chromosomal organization (GO:0051276, p = 1.09e-06) and remodeling of the chromatin (GO: 0006338, p = 7.86e-06), and the pathways were hepatocellular carcinoma (hsa05225, p = 5.77e-05), thermogenesis (hsa04714, p = 0.00019), and cell cycle (hsa04110, p = 0.0433). Our results showed that the identification of hypertrichosis and dental anomalies may raise the suspicion of one of the thirty-nine syndromes with both phenotypes. “hypertrichosis hirsutism “hirsutism tooth “tooth abnormalities. abnormalities study databases necessary articles networks pvalues values tests Thirtynine Thirty nine 4102 41 02 41.02 n 16 3 them 14 GO0006337, GO0006337 GO 0006337, 0006337 (GO:0006337 1.09e06, 109e06 e 1.09e 06 , 1 09e GO0051276, GO0051276 0051276, 0051276 (GO:0051276 1.09e06 1.09e-06 (GO 0006338 7.86e06, 786e06 7.86e 7 86e 7.86e-06) hsa05225, hsa05225 hsa (hsa05225 5.77e05, 577e05 5.77e 05 5 77e 5.77e-05) hsa04714, hsa04714 (hsa04714 0.00019, 000019 0.00019 0 00019 0.00019) hsa04110, hsa04110 (hsa04110 0.0433. 00433 0.0433 . 0433 0.0433) thirtynine thirty phenotypes 410 4 41.0 GO000633 000633 (GO:000633 09e06 109e0 109e GO005127 005127 (GO:005127 1.09e0 1.09e-0 86e06 7.86e06 786e0 786e 7.86e-06 hsa0522 (hsa0522 77e05 5.77e05 577e0 577e 5.77e-05 hsa0471 (hsa0471 00001 0.0001 0001 hsa0411 (hsa0411 0043 0.043 043 41. GO00063 00063 (GO:00063 09e0 GO00512 00512 (GO:00512 1.09e- 86e0 7.86e0 7.86e-0 hsa052 (hsa052 77e0 5.77e0 5.77e-0 hsa047 (hsa047 0000 0.000 000 hsa041 (hsa041 004 0.04 04 GO0006 0006 (GO:0006 GO0051 0051 (GO:0051 7.86e- hsa05 (hsa05 5.77e- hsa04 (hsa04 0.00 00 0.0 GO000 (GO:000 GO005 005 (GO:005 hsa0 (hsa0 0. GO00 (GO:00 (hsa GO0 (GO:0