Review of Preferential Suspicious Genes in Microtia Patients Through Various Approaches

Abstract

Recently, an increasing trend of the birth prevalence of anotia/microtia is observed in China, contributed by changes of social environment and lifestyle. There seems to be no major breakthroughs in exact pathogenesis of microtia, though the research results related to molecular genetics unceasingly appear. In this review, the authors focus on the results of various research methods which the authors regard as the preferential suspicious gene pool to facilitate the exploration of the pathogenic genes of microtia, knowing that the mechanism of microtia is very complicated. The advantages and limitations of these various approaches will also be systematically delineated. The authors believe that this review will give a deep insight in the genetic research of microtia and help plastic surgeons manage congenital microtia more effectively.

Whole-Exome Sequencing of Discordant Monozygotic Twin Families for Identification of Candidate Genes for Microtia-Atresia

“…Both genes were detected in Families I and VI. Kini et al, 2020;Lu et al, 2020). However, the crucial candidate genes in sporadic cases are yet to be identified.…”

“…Environmental factors including retinoic acid intake, viral infection and anemia during pregnancy, and maternal intrinsic factors such as multiple pregnancy and diabetes, have been highlighted in earlier epidemiological studies (Lee et al, 2012;Liu et al, 2018). A number of experts have successfully identified microtia-atresia susceptibility genes using a variety of approaches, and a certain degree of success achieved mainly for syndromic microtia-atresia (Cox et al, 2014;Gendron et al, 2016;Wang et al, 2019;Lu et al, 2020). However, the genes responsible for nonsyndromic microtia-atresia are yet to be determined and validated.…”

“…However, the genes responsible for nonsyndromic microtia-atresia are yet to be determined and validated. Lu et al (2020) introduced a gene pool composed of all suspected microtia-atresia candidate genes identified from five main approaches. Although our understanding of the risk factors of microtia-atresia has developed, more specific pathogenic mechanisms remain to be fully elucidated.…”

A study on the therapeutic effects of biplane skin dilator implantation in auricular reconstruction

“…Microtia is a common organ malformation 1 . At present, the main treatment for microtia is ear reconstruction 2 .…”

MiR-486-5p represses chondrocyte multiplication but facilitates their deaths in congenital microtia through aiming at H3F3B

“…The severity of microtia is ranged from slight ear defect to complete absence of the ear [6]. The occurrence of microtia is a complex multifactorial disease in uenced by genetic and environmental factors [7,8]. In previous studies, the education level and age of mother, history of disease in early pregnancy, childbearing and abortion histories, smoking and drinking during pregnancy are the risk factors of microtia [9][10][11][12].…”