Treacher Collins综合征的致病基因和临床治疗策略
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摘要
Treacher Collins综合征是以常染色体显性遗传为主要遗传方式的先天颅面畸形。由于神经嵴细胞和神经上皮细胞核糖体的生物合成受阻,神经嵴细胞迁移到颅面部的数量减少,引起第一、二鳃弓发育不全,导致疾病发生。目前明确的致病基因包括细胞质核糖体生物发生因子1(tcof1)、聚合酶Ⅰ亚基c(polr1c)和聚合酶Ⅰ亚基d(polr1d)。本文就目前针对该综合征的3个主要致病基因的遗传学研究和发病机制探索,以及该综合征的临床表现、预防及临床治疗策略作一综述。
Treacher Collins syndrome is a congenital craniofacial malformation with autosomal dominant inheritance as the main genetic pattern. In this condition, the biosynthesis of ribosomes in neural crest cells and neuroepithelial cells is blocked and the number of neural crest cells that migrate to the craniofacial region decreases, causing first and second branchial arch dysplasia. Definite causative genes include treacle ribosome biogenesis factor 1(tcof1), RNA polymerase Ⅰ and Ⅲ subunit C(polr1 c), and RNA polymerase Ⅰ and Ⅲ subunit D(polr1 d). This paper provides a review of research of three major pathogenic genes, pathogenesis, phenotypic research, prevention, and treatment of the syndrome.
Treacher Collins syndrome is a congenital craniofacial malformation with autosomal dominant inheritance as the main genetic pattern. In this condition, the biosynthesis of ribosomes in neural crest cells and neuroepithelial cells is blocked and the number of neural crest cells that migrate to the craniofacial region decreases, causing first and second branchial arch dysplasia. Definite causative genes include treacle ribosome biogenesis factor 1(tcof1), RNA polymerase Ⅰ and Ⅲ subunit C(polr1 c), and RNA polymerase Ⅰ and Ⅲ subunit D(polr1 d). This paper provides a review of research of three major pathogenic genes, pathogenesis, phenotypic research, prevention, and treatment of the syndrome.
引文
[1]van Gijn DR, Tucker AS, Cobourne MT. Craniofacial development:current concepts in the molecular basis of Treacher Collins syndrome[J]. Br J Oral Maxillofac Surg, 2013, 51(5):384-388.
[2]Collins TE. Case with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones[J]. Trans Opthalmol Soc UK, 1900(20):90.
[3]Marsza?ek B, Wójcicki P, Kobus K, et al. Clinical features,treatment and genetic background of Treacher Collins syndrome[J]. J Appl Genet, 2002, 43(2):223-233.
[4]Cobb AR, Green B, Gill D, et al. The surgical management of Treacher Collins syndrome[J]. Br J Oral Maxillofac Surg,2014, 52(7):581-589.
[5]Kadakia S, Helman SN, Badhey AK, et al. Treacher Collins syndrome:the genetics of a craniofacial disease[J]. Int J Pediatr Otorhinolaryngol, 2014, 78(6):893-898.
[6]Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome:etiology, pathogenesis and prevention[J]. Eur J Hum Genet,2009, 17(3):275-283.
[7]Islam F, Afroza A, Rukunuzzaman M, et al. Treacher Collins syndrome—a case report[J]. Bangladesh J Child Heal, 2010,32(1):33-36.
[8]The Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome[J]. Nat Genet, 1996, 12(2):130-136.
[9]Dauwerse JG, Dixon J, Seland S, et al. Mutations in genes encoding subunits of RNA polymerasesⅠandⅢcause Treacher Collins syndrome[J]. Nat Genet, 2011, 43(1):20-22.
[10]王璞,范欣淼,樊悦,等. Treacher Collins综合征的研究进展[J].临床耳鼻咽喉头颈外科杂志, 2016, 30(4):333-338.Wang P, Fan XM, Fan Y, et al. The research progress of Treacher Collins syndrome[J]. J Clin Otorhinolaryngol Head Neck Surg, 2016, 30(4):333-338.
[11]Vincent M, Collet C, Verloes A, et al. Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability[J]. Eur J Hum Genet, 2014, 22(1):52-56.
[12]Dixon J, Dixon MJ. Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle[J]. Dev Dyn, 2004, 229(4):907-914.
[13]Dixon J, Edwards SJ, Anderson I, et al. Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene[J]. Genome Res,1997, 7(3):223-234.
[14]So RB, Gonzales BC, Henning DL, et al. Another face of the Treacher Collins syndrome(TCOF1)gene:identification of additional exons[J]. Gene, 2004, 328:49-57.
[15]Kadakia S, Helman SN, Badhey AK, et al. Treacher Collins Syndrome:the genetics of a craniofacial disease[J]. Int J Pediatr Otorhinolaryngol, 2014, 78(6):893-898.
[16]Valdez BC, Henning DL, So RB, 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(29):10709-10714.
[17]Hayano T, Yanagida M, Yamauchi Y, et al. Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome[J]. J Biol Chem, 2003, 278(36):34309-34319.
[18]Dixon J, Jones NC, Sandell LL, 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(36):13403-13408.
[19]Jones NC, Lynn ML, Gaudenz K, et al. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function[J]. Nat Med, 2008, 14(2):125-133.
[20]Weiner AM, Scampoli NL, Calcaterra NB. Fishing the molecular bases of Treacher Collins syndrome[J]. PLoS One,2012, 7(1):e29574.
[21]Werner A, Iwasaki S, McGourty CA, et al. Cell-fate determination by ubiquitin-dependent regulation of translation[J].Nature, 2015, 525(7570):523-527.
[22]Yao Y, Yamamoto K, Nishi Y, et al. Mouse RNA polymeraseⅠ16-k Da subunit able to associate with 40-kDa subunit is a homolog of yeast AC19 subunit of RNA polymerasesⅠandⅢ[J]. J Biol Chem, 1996, 271(51):32881-32885.
[23]Schaefer E, Collet C, Genevieve D, et al. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome[J]. Genet Med,2014, 16(9):720-724.
[24]Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome:etiology, pathogenesis and prevention[J]. Eur J Hum Genet,2009, 17(3):275-283.
[25]HertleRW,ZiylanS,KatowitzJA.Ophthalmicfeatures and visual prognosis in the Treacher-Collins syndrome[J].Br J Ophthalmol, 1993, 77(10):642-645.
[26]Posnick JC, al-Qattan MM, Moffat SM, et al. Cranio-orbitozygomatic measurements from standard CT scans in unoperated Treacher Collins syndrome patients:comparison with normal controls[J]. Cleft Palate Craniofac J, 1995, 32(1):20-24.
[27]Chong DK, Murray DJ, Britto JA, et al. A cephalometric analysis of maxillary and mandibular parameters in Treacher Collins syndrome[J]. Plast Reconstr Surg, 2008, 121(3):77e-84e.
[28]Marres HA, Cremers CW, Marres EH, et al. Ear surgery in Treacher Collins syndrome[J]. Ann Otol Rhinol Laryngol,1995, 104(1):31-41.
[29]Plomp RG, Mathijssen IM, Moolenburgh SE, et al. Nasal sequelae of Treacher Collins syndrome[J]. J Plast Reconstr Aesthet Surg, 2015, 68(6):771-781.
[30]KothariP. TreacherCollinssyndrome—acasereport[J].Web medcentral, 2012, 3(1):WMC002902.
[31]Edwards SJ, Fowlie A, Cust MP, et al. Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging[J]. J Med Genet, 1996, 33(7):603-606.
[32]Shete P, Tupkari J, Benjamin T, et al. Treacher collins syndrome[J]. J Oral Maxillofac Pathol, 2011, 15(3):348-351.
[33]Chang CC, Steinbacher DM. Treacher Collins syndrome[J].Semin Plast Surg, 2012, 26(2):83-90.
[34]Trainor PA, Andrews BT. Facial dysostoses:etiology, pathogenesis and management[J]. Am J Med Genet C Semin Med Genet, 2013, 163C(4):283-294.
[35]张志愿,俞光岩.口腔颌面外科学[M].北京:人民卫生出版社, 2012.Zhang ZY, Yu GY. Oral and maxillofacial surgery[M]. Beijing:People’s Medical Publishing House, 2012.
[36]Donehower LA, Harvey M, Slagle BL, et al. Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours[J]. Nature, 1992, 356(6366):215-221.
[37]Ciccia A, Huang JW, Izhar L, et al. Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response[J]. Proc Natl Acad Sci U S A, 2014, 111(52):18631-18636.
[38]Sakai D, Dixon J, Achilleos A, et al. Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation[J]. Nat Commun,2016, 7:10328.
[2]Collins TE. Case with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones[J]. Trans Opthalmol Soc UK, 1900(20):90.
[3]Marsza?ek B, Wójcicki P, Kobus K, et al. Clinical features,treatment and genetic background of Treacher Collins syndrome[J]. J Appl Genet, 2002, 43(2):223-233.
[4]Cobb AR, Green B, Gill D, et al. The surgical management of Treacher Collins syndrome[J]. Br J Oral Maxillofac Surg,2014, 52(7):581-589.
[5]Kadakia S, Helman SN, Badhey AK, et al. Treacher Collins syndrome:the genetics of a craniofacial disease[J]. Int J Pediatr Otorhinolaryngol, 2014, 78(6):893-898.
[6]Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome:etiology, pathogenesis and prevention[J]. Eur J Hum Genet,2009, 17(3):275-283.
[7]Islam F, Afroza A, Rukunuzzaman M, et al. Treacher Collins syndrome—a case report[J]. Bangladesh J Child Heal, 2010,32(1):33-36.
[8]The Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome[J]. Nat Genet, 1996, 12(2):130-136.
[9]Dauwerse JG, Dixon J, Seland S, et al. Mutations in genes encoding subunits of RNA polymerasesⅠandⅢcause Treacher Collins syndrome[J]. Nat Genet, 2011, 43(1):20-22.
[10]王璞,范欣淼,樊悦,等. Treacher Collins综合征的研究进展[J].临床耳鼻咽喉头颈外科杂志, 2016, 30(4):333-338.Wang P, Fan XM, Fan Y, et al. The research progress of Treacher Collins syndrome[J]. J Clin Otorhinolaryngol Head Neck Surg, 2016, 30(4):333-338.
[11]Vincent M, Collet C, Verloes A, et al. Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability[J]. Eur J Hum Genet, 2014, 22(1):52-56.
[12]Dixon J, Dixon MJ. Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle[J]. Dev Dyn, 2004, 229(4):907-914.
[13]Dixon J, Edwards SJ, Anderson I, et al. Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene[J]. Genome Res,1997, 7(3):223-234.
[14]So RB, Gonzales BC, Henning DL, et al. Another face of the Treacher Collins syndrome(TCOF1)gene:identification of additional exons[J]. Gene, 2004, 328:49-57.
[15]Kadakia S, Helman SN, Badhey AK, et al. Treacher Collins Syndrome:the genetics of a craniofacial disease[J]. Int J Pediatr Otorhinolaryngol, 2014, 78(6):893-898.
[16]Valdez BC, Henning DL, So RB, 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(29):10709-10714.
[17]Hayano T, Yanagida M, Yamauchi Y, et al. Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome[J]. J Biol Chem, 2003, 278(36):34309-34319.
[18]Dixon J, Jones NC, Sandell LL, 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(36):13403-13408.
[19]Jones NC, Lynn ML, Gaudenz K, et al. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function[J]. Nat Med, 2008, 14(2):125-133.
[20]Weiner AM, Scampoli NL, Calcaterra NB. Fishing the molecular bases of Treacher Collins syndrome[J]. PLoS One,2012, 7(1):e29574.
[21]Werner A, Iwasaki S, McGourty CA, et al. Cell-fate determination by ubiquitin-dependent regulation of translation[J].Nature, 2015, 525(7570):523-527.
[22]Yao Y, Yamamoto K, Nishi Y, et al. Mouse RNA polymeraseⅠ16-k Da subunit able to associate with 40-kDa subunit is a homolog of yeast AC19 subunit of RNA polymerasesⅠandⅢ[J]. J Biol Chem, 1996, 271(51):32881-32885.
[23]Schaefer E, Collet C, Genevieve D, et al. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome[J]. Genet Med,2014, 16(9):720-724.
[24]Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome:etiology, pathogenesis and prevention[J]. Eur J Hum Genet,2009, 17(3):275-283.
[25]HertleRW,ZiylanS,KatowitzJA.Ophthalmicfeatures and visual prognosis in the Treacher-Collins syndrome[J].Br J Ophthalmol, 1993, 77(10):642-645.
[26]Posnick JC, al-Qattan MM, Moffat SM, et al. Cranio-orbitozygomatic measurements from standard CT scans in unoperated Treacher Collins syndrome patients:comparison with normal controls[J]. Cleft Palate Craniofac J, 1995, 32(1):20-24.
[27]Chong DK, Murray DJ, Britto JA, et al. A cephalometric analysis of maxillary and mandibular parameters in Treacher Collins syndrome[J]. Plast Reconstr Surg, 2008, 121(3):77e-84e.
[28]Marres HA, Cremers CW, Marres EH, et al. Ear surgery in Treacher Collins syndrome[J]. Ann Otol Rhinol Laryngol,1995, 104(1):31-41.
[29]Plomp RG, Mathijssen IM, Moolenburgh SE, et al. Nasal sequelae of Treacher Collins syndrome[J]. J Plast Reconstr Aesthet Surg, 2015, 68(6):771-781.
[30]KothariP. TreacherCollinssyndrome—acasereport[J].Web medcentral, 2012, 3(1):WMC002902.
[31]Edwards SJ, Fowlie A, Cust MP, et al. Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging[J]. J Med Genet, 1996, 33(7):603-606.
[32]Shete P, Tupkari J, Benjamin T, et al. Treacher collins syndrome[J]. J Oral Maxillofac Pathol, 2011, 15(3):348-351.
[33]Chang CC, Steinbacher DM. Treacher Collins syndrome[J].Semin Plast Surg, 2012, 26(2):83-90.
[34]Trainor PA, Andrews BT. Facial dysostoses:etiology, pathogenesis and management[J]. Am J Med Genet C Semin Med Genet, 2013, 163C(4):283-294.
[35]张志愿,俞光岩.口腔颌面外科学[M].北京:人民卫生出版社, 2012.Zhang ZY, Yu GY. Oral and maxillofacial surgery[M]. Beijing:People’s Medical Publishing House, 2012.
[36]Donehower LA, Harvey M, Slagle BL, et al. Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours[J]. Nature, 1992, 356(6366):215-221.
[37]Ciccia A, Huang JW, Izhar L, et al. Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response[J]. Proc Natl Acad Sci U S A, 2014, 111(52):18631-18636.
[38]Sakai D, Dixon J, Achilleos A, et al. Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation[J]. Nat Commun,2016, 7:10328.