摘要
<正>Treacher Collins综合征(TCS,OMIM154500)是常见的下颌面骨发育不全综合征(mandibulofacial dysostosis,MFD),也称为Franceschetti-Klein综合征,由第一、二鳃弓发育不全引起。多数TCS患者属于常染色体显性遗传方式,致病基因为TCOF1(78%~93%)和POLR1C或POLR1D(8%),少数病例(1%)为常染色体隐性遗
Treacher Collins syndrome(TCS,OMIM 154500),also known as Franceschetti-Klein syndrome,is a rare disorder that affects the first and second branchial arches.The estimated incidence is 1/50 000 live births.Mutations in TCOF1(78%-93%)and POLR1C or POLR1D(8%)cause the disease.Most of TCS cases are inherited in a dominant pattern,while a small proportion are inherited in a recessive pattern.TCS has a variable phenotype with typical clinical characteristics including downward-slant of palpebral fissure,malar hypoplasia,mandibular hypoplasia and microtia.TCS management is a multidisciplinary affair,as interventions range from reconstructive to psychosocial.For hearing rehabilitation,TCS patients may have the choices of BAHA,ponto,vibrant soundbridge or bonebridge implantation.In this review,we summarize the TCS clinical malformations,diagnosis,genetics,management and auditory rehabilitation.
引文
[1]TEBER O A,GILLESSEN-KAESBACH G,FISCHER S,et al.Genotyping in 46patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation[J].Eur J Hum Genet,2004,12:879-890.
[2]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,2015,29:[Epub ahead of print].
[3]SPLENDORE A,SILVA E O,ALONSO L G,et al.High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes[J].Hum Mutat,2000,16:315-322.
[4]DAUWERSE J G,DIXON J,SELAND S,et al.Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome[J].Nat Genet,2011,43:20-22.
[5]KADAKIA S,HELMAN S N,BADHEY A K,et al.Treacher Collins Syndrome:the genetics of a craniofacial disease[J].Int J Pediatr Otorhinolaryngol,2014,78:893-898.
[6][No authors listed].Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome.The Treacher CollinsSyndrome Collaborative Group[J].Nat Genet,1996,12:130-136.
[7]COBB A R,GREEN B,GILL D,et al.The surgical management of Treacher Collins syndrome[J].Br J Oral Maxillofac Surg,2014,52:581-589.
[8]VAN DER MEULEN J C,MAZZOLA R,VERMEY-KEERS C,et al.A morphogenetic classification of craniofacial malformations[J].Plast Reconstr Surg,1983,71:560-572.
[9]TRAINOR P A,DIXON J,DIXON M J.Treacher Collins syndrome:etiology,pathogenesis and prevention[J].Eur J Hum Genet,2009,17:275-283.
[10]VAN GIJN D R,TUCKER A S,COBOURNE M T.Craniofacial development:current concepts in the molecular basis of Treacher Collins syndrome[J].Br J Oral Maxillofac Surg,2013,51:384-388.
[11]DIXON M J,READ A P,DONNAI D,et al.The gene for Treacher Collins syndrome maps to the long arm of chromosome 5[J].Am J Hum Genet,1991,49:17-22.
[12]DIXON J,EDWARDS S J,ANDERSON I,et al.Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene[J].Genome Res,1997,7:223-234.
[13]SO R B,GONZALES B,HENNING D,et al.Another face of the Treacher Collins syndrome(TCOF1)gene:identification of additional exons[J].Gene,2004,328:49-57.
[14]SAKAI D,TRAINOR P A.Treacher Collins syndrome:unmasking the role of TCOF1/treacle[J].Int J Biochem Cell Biol,2009,41:1229-1232.
[15]ISAAC C,MARSH K L,PAZNEKAS W A,et al.Characterization of the nucleolar gene product,treacle,in Treacher Collins syndrome[J].Mol Biol Cell,2000,11:3061-3071.
[16]VALDEZ B C,HENNING D,SO R B,et al.The Treacher Collins syndrome(TCOF1)gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor[J].Proc Natl Acad Sci U S A,2004,101:10709-10714.
[17]DIXON J,JONES N C,SANDELL L L,et al.TCOF1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities[J].Proc Natl Acad Sci U S A,2006,103:13403-13408.
[18]WANG Y,YIN X J,HAN T,et al.A novel silent deletion,an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome[J].Mol Genet Genomics,2014,289:1237-1240.
[19]ZOU B,MITTAL R,GRATI M,et al.The application of genome editing in studying hearing loss[J].Hear Res,2015,327:102-108.
[20]WEINER A M,SCAMPOLI N L,CALCATERRA N B.Fishing the molecular bases of Treacher Collins syndrome[J].PLoS One,2012,7:e29574.
[21]YAO Y,YAMAMOTO K,NISHI Y,et al.Mouse RNA polymerase I 16-kDa subunit able to associate with 40-kDa subunit is a homolog of yeast AC19subunit of RNA polymerases I and III[J].J Biol Chem,1996,271:32881-32885.
[22]庄洪兴,蒋海越,潘博,等.先天性小耳畸形的皮肤软组织扩张器法外耳再造术[J].中华整形外科杂志,2006,22(4):286-289.
[23]HERLIN C,DOUCET J C,BIGORRE M,et al.Computer-assisted midface reconstruction in Treacher Collins syndrome part 2:soft tissue reconstruction[J].J Craniomaxillofac Surg,2013,41:676-680.
[24]SAADEH P B,CHANG C C,WARREN S M,et al.Microsurgical correction of facial contour deformities in patients with craniofacial malformations:a 15-year experience[J].Plast Reconstr Surg,2008,121:368e-378e.
[25]CHANG C C,STEINBACHER D M.Treacher collins syndrome[J].Semin Plast Surg,2012,26:83-90.
[26]FAN Y,ZHANG Y,WANG P,et al.The efficacy of unilateral bone-anchored hearing devices in Chinese Mandarin-speaking patients with bilateral aural atresia[J].JAMA Otolaryngol Head Neck Surg,2014,140:357-362.
[27]OLIVEIRA A K,FERRO L P,DA S J,et al.Results of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome[J].Int Arch Otorhinolaryngol,2013,17:222-226.
[28]ROSA F,COUTINHO M B,FERREIRA J P,et al.Ear malformations,hearing loss and hearing rehabilitation in children with Treacher Collins syndrome[J].Acta Otorrinolaringol Esp,2015,[Epub ahead of print].
[29]樊悦,张颖,王珍,等.骨锚式助听器术后皮肤并发症的处理及预防[J].中华耳鼻咽喉头颈外科杂志,2013,48(10):798-801.
[30]SPRINZL G M,WOLF-MAGELE A.The Bonebridge Bone Conduction Hearing Implant:Indication criteria,surgery and a systematic review of the literature[J].Clin Otolaryngol,2015,[Epub ahead of print].
[31]JONES N C,LYNN M L,GAUDENZ K,et al.Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53function[J].Nat Med,2008,14:125-133.
