国际口腔医学杂志 ›› 2021, Vol. 48 ›› Issue (5): 506-511.doi: 10.7518/gjkq.2021085

• 唇腭裂专栏 • 上一篇    下一篇

腭心面综合征临床特征和遗传学的研究进展

周玉兰(),石冰,贾仲林()   

  1. 口腔疾病研究国家重点实验室 国家口腔疾病临床医学研究中心四川大学华西口腔医院唇腭裂外科 成都 610041
  • 收稿日期:2021-02-22 修回日期:2021-05-27 出版日期:2021-09-01 发布日期:2021-09-10
  • 通讯作者: 贾仲林
  • 作者简介:周玉兰,硕士,Email: yulanzhou2608@sina.com
  • 基金资助:
    国家自然科学基金(81600849)

Research advances on the characterization of the clinical features and genetics of palatocardiofacial syndrome

Zhou Yulan(),Shi Bing,Jia Zhonglin()   

  1. State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Dept. of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China
  • Received:2021-02-22 Revised:2021-05-27 Online:2021-09-01 Published:2021-09-10
  • Contact: Zhonglin Jia
  • Supported by:
    National Natural Science Foundation of China(81600849)

摘要:

腭心面综合征(VCFS)是在人类中发现的最常见的多发性异常综合征之一,主要与22号染色体长臂11区2带的染色体微缺失有关。患者存在腭部、心脏、颅面、免疫等多方面的复杂发育畸形。本文就近年来VCFS的临床表现和遗传特征的研究进展作一综述。

关键词: 腭心面综合征, 临床特征, 遗传学特征

Abstract:

Velo cardio facial syndrome (VCFS), with 22q11.2 deletion, is one of the most common multiple abnormal syndromes. VCFS is the most common hereditary disease in paediatric otolaryngology. Patients exhibit complex developmental malformations of the palate, heart, craniofacial, immune system and other organs. This review aimed to summarize recent advances in the characterization of the clinical manifestations and genetic characteristics of VCFS.

Key words: velo cardio facial syndrome, clinical features, genetic characteristics

中图分类号: 

  • R34
[1] Zeng N, Wu J, Zhu WC, et al. Evaluation of the association of polymorphisms in EYA1, environmental factors, and non-syndromic orofacial clefts in Western Han Chinese[J]. J Oral Pathol Med, 2015, 44(10):864-869.
doi: 10.1111/jop.12311 pmid: 25640282
[2] Kobrynski LJ, Sullivan KE. Velocardiofacial syndro-me, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes[J]. Lancet, 2007, 370(9596):1443-1452.
pmid: 17950858
[3] Wu DD, Chen Y, Xu C, et al. Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients[J]. PLoS One, 2013, 8(1):e54404.
doi: 10.1371/journal.pone.0054404
[4] Sullivan KE. Chromosome 22q11.2 deletion syndro-me and DiGeorge syndrome[J]. Immunol Rev, 2019, 287(1):186-201.
doi: 10.1111/imr.2019.287.issue-1
[5] Panamonta V, Wichajarn K, Chaikitpinyo A, et al. Birth prevalence of chromosome 22q11.2 deletion syndrome: a systematic review of population-based studies[J]. Chotmaihet Thangphaet, 2016, 99(Suppl 5):S187-S193.
[6] Bassett AS, McDonald-McGinn DM, Devriendt K, et al. International 22q11.2 Deletion Syndrome Consortium. Practical guidelines for managing patients with 22q11.2 deletion syndrome[J]. J Pediatr, 2011, 159(2):332-339.
doi: 10.1016/j.jpeds.2011.02.039
[7] McDonald-McGinn DM, Sullivan KE, Marino B, et al. 22q11.2 deletion syndrome[J]. Nat Rev Dis Pri-mers, 2015, 1:15071.
[8] Morrow BE, McDonald-McGinn DM, Emanuel BS, et al. Molecular genetics of 22q11.2 deletion syndrome[J]. Am J Med Genet A, 2018, 176(10):2070-2081.
doi: 10.1002/ajmg.a.40504
[9] Perez E, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes)[J]. Curr Opin Pediatr, 2002, 14(6):678-683.
doi: 10.1097/00008480-200212000-00005
[10] Lopez-Rivera E, Liu YP, Verbitsky M, et al. Genetic drivers of kidney defects in the DiGeorge syndrome[J]. N Engl J Med, 2017, 376(8):742-754.
doi: 10.1056/NEJMoa1609009
[11] McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)[J]. Medicine (Baltimore), 2011, 90(1):1-18.
doi: 10.1097/MD.0b013e3182060469
[12] Zinkstok JR, Boot E, Bassett AS, et al. Neurobiolo-gical perspective of 22q11.2 deletion syndrome[J]. Lancet Psychiatry, 2019, 6(11):951-960.
doi: S2215-0366(19)30076-8 pmid: 31395526
[13] Brenner MK, Clarke S, Mahnke DK, et al. Effect of 22q11.2 deletion on bleeding and transfusion utilization in children with congenital heart disease undergoing cardiac surgery[J]. Pediatr Res, 2016, 79(2):318-324.
doi: 10.1038/pr.2015.216
[14] Murphy KC, Jones LA, Owen MJ. High rates of schi-zophrenia in adults with velo-cardio-facial syndrome[J]. Arch Gen Psychiatry, 1999, 56(10):940-945.
pmid: 10530637
[15] Vangkilde A, Jepsen JR, Schmock H, et al. Associations between social cognition, skills, and function and subclinical negative and positive symptoms in 22q11.2 deletion syndrome[J]. J Neurodev Disord, 2016, 8:42.
pmid: 27891188
[16] Biswas AB, Furniss F. Cognitive phenotype and psychiatric disorder in 22q11.2 deletion syndrome: a review[J]. Res Dev Disabil, 2016, (53/54):242-257.
[17] Vorstman JA, Breetvelt EJ, Duijff SN, et al. International consortium on brain and behavior in 22q11.2 deletion syndrome. Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome[J]. JAMA Psychiatry, 2015, 72(4):377-385.
doi: 10.1001/jamapsychiatry.2014.2671 pmid: 25715178
[18] Repetto GM, Guzmán ML, Delgado I, et al. Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study[J]. BMJ Open, 2014, 4(11):e005041.
doi: 10.1136/bmjopen-2014-005041
[19] Girirajan S, Rosenfeld JA, Coe BP, et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants[J]. N Engl J Med, 2012, 367(14):1321-1331.
doi: 10.1056/NEJMoa1200395
[20] Shaikh TH, Kurahashi H, Emanuel BS. Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review[J]. Genet Med, 2001, 3(1):6-13.
pmid: 11339380
[21] Hwang VJ, Maar D, Regan J, et al. Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR[J]. BMC Med Genet, 2014, 15:106.
doi: 10.1186/s12881-014-0106-5
[22] Bittel DC, Yu S, Newkirk H, et al. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH[J]. Cytogenet Genome Res, 2009, 124(2):113-120.
doi: 10.1159/000207515 pmid: 19420922
[23] Morrow B, Goldberg R, Carlson C, et al. Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome[J]. Am J Hum Genet, 1995, 56(6):1391-1403.
pmid: 7762562
[24] McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net[J]. Genet Med, 2001, 3(1):23-29.
pmid: 11339373
[25] Carlson C, Sirotkin H, Pandita R, et al. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients[J]. Am J Hum Genet, 1997, 61(3):620-629.
pmid: 9326327
[26] Ensenauer RE, Adeyinka A, Flynn HC, et al. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients[J]. Am J Hum Genet, 2003, 73(5):1027-1040.
pmid: 14526392
[27] Panamonta V, Wichajarn K, Wongswadiwat Y, et al. Assessment of chromosome 22q11.2 deletion in patients with isolated cleft palate: a systematic review of prospective studies[J]. J Med Assoc Thai, 2016, 99(Suppl 5):S194-S198.
[28] Wu DD, Chen Y, Chen QM, et al. Clinical presentation and genetic profiles of Chinese patients with velocardiofacial syndrome in a large referral centre[J]. J Genet, 2019, 98(2):42.
doi: 10.1007/s12041-019-1090-5
[29] Du QM, de la Morena MT, van Oers NSC. The genetics and epigenetics of 22q11.2 deletion syndrome[J]. Front Genet, 2019, 10:1365.
doi: 10.3389/fgene.2019.01365
[30] Fulcoli FG, Franzese M, Liu XY, et al. Rebalancing gene haploinsufficiency in vivo by targeting chromatin[J]. Nat Commun, 2016, 7:11688.
doi: 10.1038/ncomms11688
[31] Chen L, Fulcoli FG, Ferrentino R, et al. Transcriptional control in cardiac progenitors: Tbx1 interacts with the BAF chromatin remodeling complex and regulates Wnt5a[J]. PLoS Genet, 2012, 8(3):e100-2571.
[32] Hierck BP, Molin DG, Boot MJ, et al. A chicken model for DGCR6 as a modifier gene in the DiGeorge critical region[J]. Pediatr Res, 2004, 56(3):440-448.
doi: 10.1203/01.PDR.0000136151.50127.1C
[33] Das Chakraborty R, Chakraborty D, Bernal AJ, et al. Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome[J]. Transl Psychiatry, 2012, 2:e105.
doi: 10.1038/tp.2012.31
[34] Gao WM, Higaki T, Eguchi-Ishimae M, et al. DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects[J]. Hum Genome Var, 2015, 2:15004.
doi: 10.1038/hgv.2015.4
[35] Fulcoli FG, Huynh T, Scambler PJ, et al. Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner[J]. PLoS One, 2009, 4(6):e6049.
doi: 10.1371/journal.pone.0006049
[36] Liu W, Selever J, Wang DG, et al. Bmp4 signaling is required for outflow-tract septation and branchial-arch artery remodeling[J]. Proc Natl Acad Sci U S A, 2004, 101(13):4489-4494.
doi: 10.1073/pnas.0308466101
[37] Gordon J, Patel SR, Mishina Y, et al. Evidence for an early role for BMP4 signaling in Thymus and pa-rathyroid morphogenesis[J]. Dev Biol, 2010, 339(1):141-154.
doi: 10.1016/j.ydbio.2009.12.026 pmid: 20043899
[38] Baldini A, Fulcoli FG, Illingworth E. Tbx1: transcriptional and developmental functions[J]. Curr Top Dev Biol, 2017, 122:223-243.
doi: S0070-2153(16)30169-7 pmid: 28057265
[39] Merscher S, Funke B, Epstein JA, et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome[J]. Cell, 2001, 104(4):619-629.
pmid: 11239417
[40] Zhang Z, Baldini A. In vivo response to high-resolution variation of Tbx1 mRNA dosage[J]. Hum Mol Genet, 2008, 17(1):150-157.
pmid: 17916582
[41] Schofield CM, Hsu R, Barker AJ, et al. Monoallelic deletion of the microRNA biogenesis gene Dgcr8 produces deficits in the development of excitatory synaptic transmission in the prefrontal cortex[J]. Neural Dev, 2011, 6:11.
doi: 10.1186/1749-8104-6-11 pmid: 21466685
[42] Voss AK, Vanyai HK, Collin C, et al. MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome[J]. Dev Cell, 2012, 23(3):652-663.
doi: 10.1016/j.devcel.2012.07.010
[43] Lambrechts D, Devriendt K, Driscoll DA, et al. Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study[J]. J Med Genet, 2005, 42(6):519-522.
pmid: 15937089
[44] Radoeva PD, Coman IL, Antshel KM, et al. Atlas-based white matter analysis in individuals with velo-cardio-facial syndrome (22q11.2 deletion syndrome) and unaffected siblings[J]. Behav Brain Funct, 2012, 8:38.
doi: 10.1186/1744-9081-8-38 pmid: 22853778
[45] Olszewski AK, Kikinis Z, Gonzalez CS, et al. The social brain network in 22q11.2 deletion syndrome: a diffusion tensor imaging study[J]. Behav Brain Fun-ct, 2017, 13(1):4.
[46] Scariati E, Padula MC, Schaer M, et al. Long-range dysconnectivity in frontal and midline structures is associated to psychosis in 22q11.2 deletion syndrome[J]. J Neural Transm (Vienna), 2016, 123(8):823-839.
[47] Jalali GR, Vorstman JA, Errami A, et al. Detailed analysis of 22q11.2 with a high density MLPA probe set[J]. Hum Mutat, 2008, 29(3):433-440.
pmid: 18033723
[48] Poirsier C, Besseau-Ayasse J, Schluth-Bolard C, et al. A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH[J]. Eur J Hum Genet, 2016, 24(6):844-851.
doi: 10.1038/ejhg.2015.219 pmid: 26508576
[49] Zemojtel T, Köhler S, Mackenroth L, et al. Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome[J]. Sci Transl Med, 2014, 6(252): 252ra123.
[1] 方绍伟综述 郑 谦审校. 22 号染色体长臂近端微片段缺失综合征的遗传学研究[J]. 国际口腔医学杂志, 2009, 36(1): 91-91~93.
Viewed
Full text


Abstract

Cited

  Shared   
  Discussed   
[1] 张新春. 桩冠修复与无髓牙的保护[J]. 国际口腔医学杂志, 1999, 26(06): .
[2] 王昆润. 长期单侧鼻呼吸对头颅发育有不利影响[J]. 国际口腔医学杂志, 1999, 26(05): .
[3] 彭国光. 颈淋巴清扫术中颈交感神经干的解剖变异[J]. 国际口腔医学杂志, 1999, 26(05): .
[4] 杨凯. 淋巴化疗的药物运载系统及其应用现状[J]. 国际口腔医学杂志, 1999, 26(05): .
[5] 康非吾. 种植义齿下部结构生物力学研究进展[J]. 国际口腔医学杂志, 1999, 26(05): .
[6] 柴枫. 可摘局部义齿用Co-Cr合金的激光焊接[J]. 国际口腔医学杂志, 1999, 26(04): .
[7] 孟姝,吴亚菲,杨禾. 伴放线放线杆菌产生的细胞致死膨胀毒素及其与牙周病的关系[J]. 国际口腔医学杂志, 2005, 32(06): 458 -460 .
[8] 费晓露,丁一,徐屹. 牙周可疑致病菌对口腔黏膜上皮的粘附和侵入[J]. 国际口腔医学杂志, 2005, 32(06): 452 -454 .
[9] 赵兴福,黄晓晶. 变形链球菌蛋白组学研究进展[J]. 国际口腔医学杂志, 2008, 35(S1): .
[10] 庞莉苹,姚江武. 抛光和上釉对陶瓷表面粗糙度、挠曲强度及磨损性能的影响[J]. 国际口腔医学杂志, 2008, 35(S1): .