TY - JOUR
T1 - Unravelling the genetic and epigenetic symphony
T2 - a narrative review exploring the interplay in etiology of microtia
AU - Koento, Trimartani
AU - Reksodiputro, Mirta Hediyati
AU - Yosia, Mikhael
N1 - Publisher Copyright:
© 2023 SECOM CyC.
PY - 2023/7
Y1 - 2023/7
N2 - Microtia, a congenital anomaly of the external ear, serves as a model to explore the intricate synergy between genetics and epigenetics in shaping phenotypic outcomes. Genetics, residing in DNA, provides the blueprint for development, while epigenetic modifications modulate gene expression without altering the DNA sequence. This comprehensive review delves into their combined influence on microtia’s etiology, unravelling the significance of DNA methylation, histone modifications, and microRNAs in ear formation and their susceptibility to environmental cues. Genetic investigations encompass pedigree analysis and whole-exome sequencing, spotlighting pivotal genes like HOXA4 and CHST15. Syndromic associations underscore the multifaceted genetic underpinning of microtia. This dynamic interplay between genetics and epigenetics enriches our understanding of developmental anomalies, offering insights for tailored interventions and clinical strategies to manage this condition in a personalized manner. The continuous exploration of these interactions opens avenues for deciphering intricate developmental processes and expanding our comprehension of related anomalies.
AB - Microtia, a congenital anomaly of the external ear, serves as a model to explore the intricate synergy between genetics and epigenetics in shaping phenotypic outcomes. Genetics, residing in DNA, provides the blueprint for development, while epigenetic modifications modulate gene expression without altering the DNA sequence. This comprehensive review delves into their combined influence on microtia’s etiology, unravelling the significance of DNA methylation, histone modifications, and microRNAs in ear formation and their susceptibility to environmental cues. Genetic investigations encompass pedigree analysis and whole-exome sequencing, spotlighting pivotal genes like HOXA4 and CHST15. Syndromic associations underscore the multifaceted genetic underpinning of microtia. This dynamic interplay between genetics and epigenetics enriches our understanding of developmental anomalies, offering insights for tailored interventions and clinical strategies to manage this condition in a personalized manner. The continuous exploration of these interactions opens avenues for deciphering intricate developmental processes and expanding our comprehension of related anomalies.
KW - CHST15
KW - epigenetic
KW - genetic
KW - HOXA4
KW - Microtia
UR - http://www.scopus.com/inward/record.url?scp=85182994519&partnerID=8YFLogxK
U2 - 10.20986/recom.2023.1475/2023
DO - 10.20986/recom.2023.1475/2023
M3 - Review article
AN - SCOPUS:85182994519
SN - 1130-0558
VL - 45
SP - 121
EP - 127
JO - Revista Espanola de Cirugia Oral y Maxilofacial
JF - Revista Espanola de Cirugia Oral y Maxilofacial
IS - 3
ER -