1朱军,王艳萍,梁娟,等.1988~1992年全国先天性无耳和小耳畸形发病率的抽样调查[J].中华耳鼻咽喉科杂志,2000,35:61.

2 Li CL,Chen Y,Shan J,et al.Phenotypic characterization and risk factors for microtia in East China,a case-control study[J].Int J Pediatr Otorhinolaryngol,2014,78:2060.

3 Luquetti DV,Leoncini E,Mastroiacovo P.Microtia-anotia:aglobal review of prevalence rates[J].Birth Defects Res A Clin Mol Teratol,2011,91:813.

4 Artunduaga MA,Quintanilla-dieck ML,Greenway S,et al.A classic twin study of external ear malformations,including microtia[J].N Engl J Med,2009,361:1216.

5 Fuchs JC,Tucker AS.Development and integration of the ear[J].Curr Top Dev Biol,2015,115:213.

6 Qiao R,He Y,Pan B,et al.Understanding the molecular mechanisms of human microtia via a pig model of HOXA1syndrome[J].Dis Model Mech,2015,8:611.

7 Gendron C,Schwentker A,van Aalst JA.Genetic advances in the understanding of microtia[J].J Pediatr Genet,2016,5:189.

8 Balikova I,Martens K,Melotte C,et al.Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16[J].Am J Hum Genet,2008,82:181.

9 Feenstra I,Vissers LE,Pennings RJ,et al.Disruption of teashirt zinc finger homeobox 1is associated with congenital aural atresia in humans[J].Am J Hum Genet,2011,89:813.

10 Perry BP,Co JD.Otologic characteristics of individuals with deletions of distal 18q[J].Laryngoscope,2014,124:2606.

11 Group TTCS.Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome.[J].Nat Genet,1996,12:130.

12 Kohlhase J,Wischermann A,Reichenbach H,et al.Mutations in the SALL1putative transcription factor gene cause Townes-Brocks syndrome[J].Nat Genet,1998,18:81.

13 Ng SB,Buckingham KJ,Lee C,et al.Exome sequencing identifies the cause of a mendelian disorder[J].Nat Genet,2010,42:30.

14 Vincent M,Genevieve D,Ostertag A,et al.Treacher Collins syndrome:a clinical and molecular study based on a large series of patients[J].Genet Med,2016,18:49.

15 Chen Y,Guo L,Li CL,et al.Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1mutations[J].Mol Genet Genomics,2018,293:569.

16 Dauwerse JG,Dixon J,Seland S,et al.Mutations in genes encoding subunits of RNA polymerasesⅠandⅢcause Treacher Collins syndrome[J].Nat Genet,2011,43:20.

17 Schaefer E,Collet C,Genevieve D,et al.Autosomal recessive POLR1Dmutation with decrease of TCOF1mRNA is responsible for Treacher Collins syndrome[J].Genet Med,2014,16:720.

18 Noack WK,Achilleos A,Neben CL,et al.The roles of RNApolymeraseⅠandⅢsubunits polr1cand polr1din craniofacial development and in zebrafish models of treacher collins syndrome[J].PLoS Genet,2016,12:e1006187.

19 de Munnik SA,Hoefsloot EH,Roukema J,et al.MeierGorlin syndrome[J].Orphanet J Rare Dis,2015,10:114.

20 Bicknell LS,Walker S,Klingseisen A,et al.Mutations in ORC1,encoding the largest subunit of the origin recognition complex,cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome[J].Nat Genet,2011,43:350.

21 Bicknell LS,Bongers EM,Leitch A,et al.Mutations in the pre-replication complex cause Meier-Gorlin syndrome[J].Nat Genet,2011,43:356.

22 Guernsey DL,Matsuoka M,Jiang H,et al.Mutations in origin recognition complex gene ORC4cause Meier-Gorlin syndrome[J].Nat Genet,2011,43:360.

23 Fenwick AL,Kliszczak M,Cooper F,et al.Mutations in CDC45,encoding an essential component of the pre-initiation complex,cause Meier-Gorlin syndrome and Craniosynostosis[J].Am J Hum Genet,2016,99:125.

24 Burrage LC,Charng WL,Eldomery MK,et al.De novo GMNN mutations cause autosomal-dominant primordial dwarfism associated with meier-gorlin syndrome[J].Am JHum Genet,2015,97:904.

25 Vetro A,Savasta S,Russo RA,et al.MCM5:a new actor in the link between DNA replication and Meier-Gorlin syndrome[J].Eur J Hum Genet,2017,25:646.

26 Yao L,Chen J,Wu X,et al.Zebrafish cdc6hypomorphic mutation causes Meier-Gorlin syndrome-like phenotype[J].Hum Mol Genet,2017,26:4168.

27 Piceci F,Morlino S,Castori M,et al.Identification of a second HOXA2nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology[J].Clin Genet,2017,91:774.

28 Minoux M,Kratochwil CF,Ducret S,et al.Mouse Hoxa2mutations provide a model for microtia and auricle duplication[J].Development,2013,140:4386.

29 Lines MA,Huang L,Schwartzentruber J,et al.Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2causes mandibulofacial dysostosis with microcephaly[J].Am JHum Genet,2012,90:369.

30 Huang L,Vanstone MR,Hartley T,et al.Mandibulofacial dysostosis with microcephaly:mutation and database update[J].Hum Mutat,2016,37:148.

31 Lei L,Yan SY,Yang R,et al.Spliceosomal protein eftud2mutation leads to p53-dependent apoptosis in zebrafish neural progenitors[J].Nucleic Acids Res,2017,45:3422.

32 Schorderet DF,Nichini O,Boisset G,et al.Mutation in the human homeobox gene NKX5-3causes an oculo-auricular syndrome[J].Am J Hum Genet,2008,82:1178.

33 Gillespie RL,Urquhart J,Lovell SC,et al.Abrogation of HMX1function causes rare oculoauricular syndrome associated with congenital cataract,anterior segment dysgenesis,and retinal dystrophy[J].Invest Ophthalmol Vis Sci,2015,56:883.

34 Abdel-salam G,Abdel-hamid MS,Mehrez MI,et al.Further delineation of the oculoauricular syndrome phenotype:a new family with a novel truncating HMX1mutation[J].Ophthalmic Genet,2018,39:215.

35 Quina LA,Kuramoto T,Luquetti DV,et al.Deletion of a conserved regulatory element required for Hmx1expression in craniofacial mesenchyme in the dumbo rat:a newly identified cause of congenital ear malformation[J].Dis Model Mech,2012,5:812.

36 Koch CT,Bruggmann R,Tetens J,et al.A non-coding genomic duplication at the HMX1locus is associated with crop ears in highland cattle[J].PLoS One,2013,8:e77841.

37 Rosin JM,Li W,Cox LL,et al.A distal 594bp ECR specifies Hmx1expression in pinna and lateral facial morphogenesis and is regulated by the Hox-Pbx-Meis complex[J].Development,2016,143:2582.

38 Monks DC,Jahangir A,Shanske AL,et al.Mutational analysis of HOXA2and SIX2in a Bronx population with isolated microtia[J].Int J Pediatr Otorhinolaryngol,2010,74:878.

39 Hao S,Jin L,Li C,et al.Mutational analysis of GSC,HOXA2and PRKRA in 106Chinese patients with microtia[J].Int J Pediatr Otorhinolaryngol,2017,93:78.

40 Lin L,Pan B,Jiang H,et al.Mutational analysis of PACTgene in Chinese patients with microtia[J].Am J Med Genet A,2011,155A:906.

41 Zhang YB,Hu J,Zhang J,et al.Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia[J].Nat Commun,2016,7:10605.