Genetics and Epigenetics in the Genesis and Development of Microtia.
Journal
The Journal of craniofacial surgery
ISSN: 1536-3732
Titre abrégé: J Craniofac Surg
Pays: United States
ID NLM: 9010410
Informations de publication
Date de publication:
12 Feb 2024
12 Feb 2024
Historique:
received:
24
07
2023
accepted:
03
12
2023
pubmed:
12
2
2024
medline:
12
2
2024
entrez:
12
2
2024
Statut:
aheadofprint
Résumé
Microtia is a congenital malformation of the external and middle ear associated with varying degrees of severity that range from mild structural abnormalities to the absence of the external ear and auditory canal. Globally, it is the second most common congenital craniofacial malformation and is typically caused by inherited defects, external factors, or the interaction between genes and external factors. Epigenetics notably represents a bridge between genetics and the environment. This review has devoted attention to the current proceedings of the genetics and epigenetics of microtia and related syndromes.
Identifiants
pubmed: 38345940
doi: 10.1097/SCS.0000000000010004
pii: 00001665-990000000-01343
doi:
Types de publication
Journal Article
Langues
eng
Informations de copyright
Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of Mutaz B. Habal, MD.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest.
Références
Xiao F, Wu B, Dong C, et al. Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project. Hum Genet 2023;142:1737–1745
Sander FH, Jorgensen DS, Jakobsen LP, et al. Prenatal detection of orofacial clefts in Denmark from 2009 to 2018. Ultrasound Obstet Gynecol 2023; doi:10.1002/uog.27488.
doi: 10.1002/uog.27488
Zhou Y, Mao X, Zhou H, et al. Birth defects data from population-based birth defects surveillance system in a district of Southern Jiangsu, China, 2014-2018. Front Public Health 2020;8:378
Luquetti D, Heike C, Hing A, et al. Microtia: epidemiology and genetics. Am J Med Genet A. 2012;158A:124
Anthwal N, Thompson H. The development of the mammalian outer and middle ear. J Anat 2016;228:217
Huang Y, Huang X, Li K, et al. Risk factors of isolated microtia: a systematic review and meta-analysis. Plast Reconstr Surg 2023;151:651e
Brown K, Viana L, Helwig C, et al. HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss. Hum Mutat 2013;34:1347
Minoux M, Kratochwil C, Ducret S, et al. Mouse Hoxa2 mutations provide a model for microtia and auricle duplication. Development 2013;140:4386
Gendron-Maguire M, Mallo M, Zhang M, et al. Hoxa-2 mutant mice exhibit homeotic transformation of skeletal elements derived from cranial neural crest. Cell 1993;75:1317
Piceci F, Morlino S, Castori M, et al. Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology. Clin Genet 2017;91:774
Alasti F, Sadeghi A, Sanati MH, et al. A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. Am J Hum Genet 2008;82:982
Qiao R, He Y, Pan B, et al. Understanding the molecular mechanisms of human microtia via a pig model of HOXA1 syndrome. Dis Model Mech 2015;8:611
Mark M, Lufkin T, Vonesch JL, et al. Two rhombomeres are altered in Hoxa-1 mutant mice. Development 1993;119:319
Lynch C. Short ears, and atusomal mutation in the house mouse. Am Nat 1921;55:421
Kingsley D, Bland A, Grubber J, et al. The mouse short ear skeletal morphogenesis locus is associated with defects in a bone morphogenetic member of the TGF beta superfamily. Cell 1992;71:399
Mailhot G, Yang M, Mason-Savas A, et al. BMP-5 expression increases during chondrocyte differentiation in vivo and in vitro and promotes proliferation and cartilage matrix synthesis in primary chondrocyte cultures. J Cell Physiol 2008;214:56
Zhang Q, Zhang J, Yu P, et al. Environmental and genetic factors associated with congenital microtia: a case-control study in Jiangsu, China, 2004 to 2007. Plast Reconstr Surg 2009;124:1157
Liu W, Wang Q, Guo Y, et al. Whole-genome sequencing identifies two novel rare mutations in BMP5 and BMP2 in monozygotic twins with microtia. J Craniofac Surg 2022;33:e212
Miller CT, Yelon D, Stainier DY, et al. Two endothelin 1 effectors, hand2 and bapx1, pattern ventral pharyngeal cartilage and the jaw joint. Development 2003;130:1353
Parry DA, Logan CV, Stegmann AP, et al. SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid. Am J Hum Genet 2013;93:1135
Rivera-Perez JA, Wakamiya M, Behringer RR. Goosecoid acts cell autonomously in mesenchyme-derived tissues during craniofacial development. Development 1999;126:3811
Zhang Q, Zhang J, Yin W. Pedigree and genetic study of a bilateral congenital microtia family. Plast Reconstr Surg 2010;125:979
Arnold JS, Braunstein EM, Ohyama T, et al. Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients. Hum Mol Genet 2006;15:1629
Funato N, Nakamura M, Richardson JA, et al. Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia. Hum Mol Genet 2015;24:424
Xu YJ, Chen S, Zhang J, et al. Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion. Bmc Med Genet 2014;15:78
Barisic I, Odak L, Loane M, et al. Prevalence, prenatal diagnosis and clinical features of oculo-auricul-vertebral spectrum: a registry-based study in Europe. Eur J Hum Genet 2014;22:1026
Lopez E, Berenguer M, Tingaud-Sequeira A, et al. Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS. J Med Genet 2016;53:752
Berenguer M, Tingaud-Sequeira A, Colovati M, et al. A novel de novo mutation in MYT1, the unique OAVS gene identified so far. Eur J Hum Genet 2017;25:1083
Tingaud-Sequeira A, Trimouille A, Marlin S, et al. Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS. Mol Genet Genomic Med 2020;8:e1375
Cretu C, Schmitzova J, Ponce-Salvatierra A, et al. Molecular architecture of SF3b and structural consequences of its cancer-related mutations. Mol Cell 2016;64:307
Timberlake AT, Griffin C, Heike CL, et al. Haploinsufficiency of SF3B2 causes craniofacial microsomia. Nat Commun 2021;12: 4680
Thomas JD, Polaski JT, Feng Q, et al. RNA isoform screens uncover the essentiality and tumor-suppressor activity of ultraconserved poison exons. Nat Genet 2020;52:84
Quiat D, Timberlake AT, Curran JJ, et al. Damaging variants in FOXI3 cause microtia and craniofacial microsomia. Genet Med 2023;25:143
Mao K, Borel C, Ansar M, et al. FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nat Commun 2023;14:2026
Khatri SB, Edlund RK, Groves AK. Foxi3 is necessary for the induction of the chick otic placode in response to FGF signaling. Dev Biol 2014;391:158
Birol O, Ohyama T, Edlund RK, et al. The mouse Foxi3 transcription factor is necessary for the development of posterior placodes. Dev Biol 2016;409:139
Estandia-Ortega B, Reyna-Fabian ME, Velazquez-Aragon JA, et al. The enigmatic etiology of oculo-auriculo-vertebral spectrum (OAVS): an exploratory gene variant interaction approach in candidate genes. Life (Basel) 2022;12:1723
Guida V, Calzari L, Fadda MT, et al. Genome-wide DNA methylation analysis of a cohort of 41 patients affected by oculo-auriculo-vertebral spectrum (OAVS). Int J Mol Sci 2021;22:1190
Celse T, Tingaud-Sequeira A, Dieterich K, et al. OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum. J Med Genet 2023;60:620
Treacher Collins Syndrome; Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 1996;12:130
Dixon J, Jones N, Sandell L, et al. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci USA 2006;103:13403
Richter CA, Amin S, Linden J, et al. Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse. Hum Mol Genet 2010;19:1551
Splendore A, Silva EO, Alonso LG, et al. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat 2000;16:315
Dauwerse J, Dixon J, Seland S, et al. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 2011;43:20
Noack Watt K, Achilleos A, Neben C, et al. The roles of RNA polymerase I and III subunits Polr1c and Polr1d in craniofacial development and in Zebrafish Models of Treacher Collins syndrome. Plos Genet 2016;12:e1006187
Ghesh L, Vincent M, Delemazure A, et al. Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: report of a new family and review of the literature. Am J Med Genet A 2019;179:1390
Sanchez E, Laplace-Builhé B, Mau-Them F, et al. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med 2019;22:547
Abdelhak S, Kalatzis V, Heilig R, et al. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 1997;15:157
Xu P, Adams J, Peters H, et al. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat Genet 1999;23:113
Musharraf A, Kruspe D, Tomasch J, et al. BOR-syndrome-associated eya1 mutations lead to enhanced proteasomal degradation of eya1 protein. Plos One 2014;9:e87407
Krug P, Morinière V, Marlin S, et al. Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into Question the Pathogenic Role of SIX5 Mutations. Hum Mutat 2011;32:183
Ruf RG, Xu PX, Silvius D, et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proceedings of the National Academy of Sciences - PNAS 2004;101:8090
Bosman E, Quint E, Fuchs H, et al. Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome. Dev Biol 2009;328:285
Hoskins B, Cramer C, Silvius D, et al. Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome. Am J Hum Genet 2007;80:800
Grifone R, Demignon J, Houbron C, et al. Six1 and Six4 homeoproteins are required for Pax3 and Mrf expression during myogenesis in the mouse embryo. Development 2005;132:2235
Cavalli G, Heard E. Advances in epigenetics link genetics to the environment and disease. Nature 2019;571:489
Skvortsova K, Iovino N, Bogdanovic O. Functions and mechanisms of epigenetic inheritance in animals. Nat Rev Mol Cell Biol 2018;19:774
Song Y, Lin L, Pan B, et al. Experimental research on DNA methylation profile in congenital microtia. Zhonghua Zheng Xing Wai Ke Za Zhi 2012;28:193
Lin L, Pan B, Jiang H, et al. Study of methylation of promoter of EYA1 gene in microtia. Zhonghua Zheng Xing Wai Ke Za Zhi 2009;25:436
Lu TX, Rothenberg ME. MicroRNA. J Allergy Clin Immunol 2018;141:1202
Torres L, Juarez U, Garcia L, et al. External ear microRNA expression profiles during mouse development. Int J Dev Biol 2015;59:497
Li C, Hao S, Wang H, et al. MicroRNA expression profiling and target genes study in congenital microtia. Int J Pediatr Otorhi 2013;77:483
Wei G. Bioinformatics analysis of microRNA comprehensive regulatory network in congenital microtia. Int J Pediatr Otorhinolaryngol 2015;79:1727
Aslan E, Akbas E, Yilmaz S, et al. Ear atresia: is there a role of apoptosis-regulating miRNAs? Northern Clinics of Istanbul 2018;5:238
Schlackow M, Nojima T, Gomes T, et al. Distinctive patterns of transcription and RNA processing for human lincRNAs. Mol Cell 2017;65:25
Zhang L, Lin L, Song Y, et al. Differential expression of long noncoding RNAs in congenital microtia. Gene Expr Patterns 2017;25–26:131–141