Genetic characteristics of microtia-associated syndromes in neonates

MA Jing; ZHOU Wen-Hao

doi:10.7499/j.issn.1008-8830.2203008

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Chinese Journal of Contemporary Pediatrics ›› 2022, Vol. 24 ›› Issue (6) : 614-619. DOI: 10.7499/j.issn.1008-8830.2203008

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Genetic characteristics of microtia-associated syndromes in neonates

MA Jing, ZHOU Wen-Hao

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Abstract

Microtia is the second most common maxillofacial birth defect in neonates and has an prevalence rate of 3.06/10 000 in China, and 20%-60% of microtia cases is associated with a certain type of syndrome. This article elaborates on the clinical phenotypes and genetic characteristics of three microtia-associated syndromes (MASs) with high prevalence, high incidence rate of ear deformity, and definite genetic etiology, i.e., oculo-auriculo-vertebral spectrum, branchio-oto-renal spectrum disorder, and Treacher-Collins syndrome, and summarizes another three common MASs, so as to provide a reference for the genetic diagnosis of neonatal MAS.

Key words

Microtia / Syndrome / Genetics / Neonate

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MA Jing, ZHOU Wen-Hao. Genetic characteristics of microtia-associated syndromes in neonates[J]. Chinese Journal of Contemporary Pediatrics. 2022, 24(6): 614-619 https://doi.org/10.7499/j.issn.1008-8830.2203008

References

1 Luquetti DV, Heike CL, Hing AV, et al. Microtia: epidemiology and genetics[J]. Am J Med Genet A, 2012, 158A(1): 124-139. PMID: 22106030. PMCID: PMC3482263. DOI: 10.1002/ajmg.a.34352.
2 Deng K, Dai L, Yi L, et al. Epidemiologic characteristics and time trend in the prevalence of anotia and microtia in China[J]. Birth Defects Res A Clin Mol Teratol, 2016, 106(2): 88-94. PMID: 26681129. DOI: 10.1002/bdra.23462.
3 Fuchs JC, Tucker AS. Development and integration of the ear[J]. Curr Top Dev Biol, 2015, 115: 213-232. PMID: 26589927. DOI: 10.1016/bs.ctdb.2015.07.007.
4 Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the Head and Neck[M]. 4th ed. Oxford: Oxford University Press, 2001.
5 Adam MP, Ardinger HH, Pagon RA, et al. GeneReviews[M/OL]. [2022-02-20]. Seattle: University of Washington, 1993. https://www.ncbi.nlm.nih.gov/books/NBK1116/.
6 Beleza-Meireles A, Clayton-Smith J, Saraiva JM, et al. Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update[J]. J Med Genet, 2014, 51(10): 635-645. PMID: 25118188. DOI: 10.1136/jmedgenet-2014-102476.
7 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]. J Med Genet, 2016, 53(11): 752-760. PMID: 27358179. DOI: 10.1136/jmedgenet-2016-103774.
8 Tingaud-Sequeira A, Trimouille A, Marlin S, et al. Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS[J]. Mol Genet Genomic Med, 2020, 8(10): e1375. PMID: 32738032. PMCID: PMC7549578. DOI: 10.1002/mgg3.1375.
9 Tingaud-Sequeira A, Trimouille A, Salaria M, et al. A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum[J]. Hum Genet, 2021, 140(6): 933-944. PMID: 33475861. DOI: 10.1007/s00439-021-02255-6.
10 Timberlake AT, Griffin C, Heike CL, et al. Haploinsufficiency of SF3B2 causes craniofacial microsomia[J]. Nat Commun, 2021, 12(1): 4680. PMID: 34344887. PMCID: PMC8333351. DOI: 10.1038/s41467-021-24852-9.
11 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[J]. Nat Genet, 1997, 15(2): 157-164. PMID: 9020840. DOI: 10.1038/ng0297-157.
12 Ruf RG, Xu PX, Silvius D, et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes[J]. Proc Natl Acad Sci U S A, 2004, 101(21): 8090-8095. PMID: 15141091. PMCID: PMC419562. DOI: 10.1073/pnas.0308475101.
13 Hoskins BE, Cramer CH, Silvius D, et al. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome[J]. Am J Hum Genet, 2007, 80(4): 800-804. PMID: 17357085. PMCID: PMC1852719. DOI: 10.1086/513322.
14 Chen A, Song J, Acke FRE, et al. Otological manifestations in branchiootorenal spectrum disorder: a systematic review and meta-analysis[J]. Clin Genet, 2021, 100(1): 3-13. PMID: 33624842. DOI: 10.1111/cge.13949.
15 Aljerian A, Gilardino MS. Treacher Collins syndrome[J]. Clin Plast Surg, 2019, 46(2): 197-205. PMID: 30851751. DOI: 10.1016/j.cps.2018.11.005.
16 Wise CA, Chiang LC, Paznekas WA, et al. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region[J]. Proc Natl Acad Sci U S A, 1997, 94(7): 3110-3115. PMID: 9096354. PMCID: PMC20330. DOI: 10.1073/pnas.94.7.3110.
17 Sanchez E, Laplace-Builhé B, Mau-Them FT, et al. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4[J]. Genet Med, 2020, 22(3): 547-556. PMID: 31649276. PMCID: PMC7056642. DOI: 10.1038/s41436-019-0669-9.
18 Dauwerse JG, Dixon J, Seland S, et al. Mutations in genes encoding subunits of RNA polymerases Ⅰ and Ⅲ cause Treacher Collins syndrome[J]. Nat Genet, 2011, 43(1): 20-22. PMID: 21131976. DOI: 10.1038/ng.724.
19 Chieffo C, Garvey N, Gong W, et al. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene[J]. Genomics, 1997, 43(3): 267-277. PMID: 9268629. DOI: 10.1006/geno.1997.4829.
20 Guris DL, Fantes J, Tara D, et al. Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome[J]. Nat Genet, 2001, 27(3): 293-298. PMID: 11242111. DOI: 10.1038/85855.
21 Motta M, Pannone L, Pantaleoni F, et al. Enhanced MAPK1 function causes a neurodevelopmental disorder within the RASopathy clinical spectrum[J]. Am J Hum Genet, 2020, 107(3): 499-513. PMID: 32721402. PMCID: PMC7477014. DOI: 10.1016/j.ajhg.2020.06.018.
22 Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome[J]. Nat Genet, 2001, 29(4): 465-468. PMID: 11704759. DOI: 10.1038/ng772.
23 Roberts AE, Araki T, Swanson KD, et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome[J]. Nat Genet, 2007, 39(1): 70-74. PMID: 17143285. DOI: 10.1038/ng1926.
24 Sanlaville D, Etchevers HC, Gonzales M, et al. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development[J]. J Med Genet, 2006, 43(3): 211-217. PMID: 16169932. PMCID: PMC2563257. DOI: 10.1136/jmg.2005.036160.
25 Martin DM, Sheldon S, Gorski JL. CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11)[J]. Am J Med Genet, 2001, 99(2): 115-119. PMID: 11241468. DOI: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1126>3.0.co;2-8.
26 Xin H, Changchen W, Lei L, et al. The phenolyzer suite: prioritizing the candidate genes involved in microtia[J]. Ann Otol Rhinol Laryngol, 2019, 128(6): 556-562. PMID: 30938165. DOI: 10.1177/0003489419840052.
27 P?s O, Budi? J, Szemes T. Recent trends in prenatal genetic screening and testing[J]. F1000Res, 2019, 8: F1000 Faculty Rev-764. PMID: 31214330. PMCID: PMC6545823. DOI: 10.12688/f1000research.16837.1.
28 Hudecova I, Chiu RW. Non-invasive prenatal diagnosis of thalassemias using maternal plasma cell free DNA[J]. Best Pract Res Clin Obstet Gynaecol, 2017, 39: 63-73. PMID: 27887921. DOI: 10.1016/j.bpobgyn.2016.10.016.
29 Zhang J, Li J, Saucier JB, et al. Publisher correction: non-invasive prenatal sequencing for multiple mendelian monogenic disorders using circulating cell-free fetal DNA[J]. Nat Med, 2019, 25(4): 701-702. PMID: 30787481. DOI: 10.1038/s41591-019-0391-9.