Heterogeneity of Accompanying Phenotypes and Genomic Variants Involved in Microtia

Abstract

Objectives: The symptoms associated with microtia are everchanging and not to stick to 1 pattern. The symptoms associated with microtia are constantly changing and are not set in stone. The aim of this article was to describe the various phenotypes from multiple systems found in microtitis patients included in the Data-basE of genomiC varIation and Phenotype in Humans using Ensembl Resources database, and to analyze possible pathogenic mutations. Methods: DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources is an interactive web-based database, which incorporates a suite of tools designed to aid the interpretation of genomic variants. The term ''microtia'' was used as the search term, and the data extracted from the DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources for this study was updated until October 2020. Pearson chi-squared test was used to test associations between types of genomic variants and the pathogenicity of variants. Results: Of the 386 cases enrolled in the study, 99% (n ¼ 382) had 1 or more associated abnormalities. The most frequently detected abnormalities were those of the face and neck (n ¼ 362 [93.8% of all cases]); musculoskeletal system (n ¼ 337 [87.3%]); and nervous system (n ¼ 334 [86.5%]), followed by abnormalities of limbs (n ¼ 252 [65.3%]); the eye (n ¼ 212 [54.9%]); and the integument (n ¼ 200 [51.8%]). Besides, a total of 479 genomic variants were determined, including sequence variants and copy number variants (loss and gain). The pathogenicity of loss-type variants was significantly higher among other types (P < 0.001). Twelve sharing variants had more than 5 repeats, and the repeated fragments were concentrated on chromosome 3, 7, 9, 10, 11, 15, 17, 18, and 22. Conclusions: Identification of the relation between phenotypes and genotypes will facilitate the uncovering of the mechanism of microtia and the study of potential therapeutic targets.

Pathogenic Genes for Congenital Microtia: A Bioinformatics Analysis

“…The traditional experimental method of the pathogenic genes of congenital microtia can only explore a few pathogenic genes, and the study of the interaction relationship between different proteins is relatively limited. 6 The research process of traditional experimental methods is time-consuming and laborious, the capital consumption is large, the research positive rate is not high, and it is impossible to systematically analyze and consult the massive data of each database. Bioinformatics can obtain a more comprehensive gene and protein interaction network by analyzing related genes and proteins based on the latest clinical and scientific research results.…”