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中华妇幼临床医学杂志(电子版) ›› 2016, Vol. 12 ›› Issue (03) : 369 -372. doi: 10.3877/cma.j.issn.1673-5250.2016.03.022

所属专题: 文献

综述

小头畸形的临床诊断与细胞和分子生物学诊断的研究进展
王芳芳1, 罗蓉1,()   
  1. 1. 610041 成都,四川大学华西第二医院儿科
  • 收稿日期:2016-01-11 修回日期:2016-03-02 出版日期:2016-06-01
  • 通信作者: 罗蓉

Research progress of clinical, cellular and molecular biology diagnosis of microcephaly

Fangfang Wang1, Rong Luo1,()   

  1. 1. Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
  • Received:2016-01-11 Revised:2016-03-02 Published:2016-06-01
  • Corresponding author: Rong Luo
  • About author:
    Corresponding author: Luo Rong, Email:
引用本文:

王芳芳, 罗蓉. 小头畸形的临床诊断与细胞和分子生物学诊断的研究进展[J/OL]. 中华妇幼临床医学杂志(电子版), 2016, 12(03): 369-372.

Fangfang Wang, Rong Luo. Research progress of clinical, cellular and molecular biology diagnosis of microcephaly[J/OL]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2016, 12(03): 369-372.

小头畸形是儿科常见的神经系统畸形,尤其在智力低下的儿童中更常见。迄今为止国内对小头畸形的相关研究报道较少,本文通过复习国外相关文献,对小头畸形的临床诊断与细胞和分子生物学诊断进行综述,旨在为小头畸形的临床诊治及进一步研究提供参考。

Microcephaly is a common nervous system malformation in pediatric outpatients, especially in children with mental retardation. Till now, only a few domestic researches reported about microcephaly. This paper reviews the researches reported abroad about clinical, cellular and molecular biology diagnosis of microcephaly, in order to provide references for clinical diagnosis, treatment and further researches.

1
Kaindl AM, Passemard S, Kumar P, et al. Many roads lead to primary autosomal recessive microcephaly[J]. Prog Neurobiol, 2010, 90(3):363-383.
2
吴希如,林庆,主编.小儿神经系统疾病基础与临床[M].北京:人民卫生出版社,2009:40-41.
3
Woods CG, Basto R. Microcephaly[J]. Curr Biol, 2014, 24(23):R1109-R1111.
4
Abuelo D. Microcephaly syndromes[J]. Semin Pediatr Neurol, 2007, 14(3):118-127.
5
Leviton A, Holmes LB, Allred EN, et al. Methodologic issues in epidemiologic studies of congenital microcephaly[J]. Early Hum Dev, 2002, 69(1):91-105.
6
Woods CG, Parker A. Investigating microcephaly [J]. Arch Dis Child, 2013, 98(9):707-713.
7
von der Hagen M, Pivarcsi M, Liebe J, et al. Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature[J]. Dev Med Child Neurol, 2014, 56(8):732-741.
8
Faheem M, Naseer MI, Rasool M, et al. Molecular genetics of human primary microcephaly: an overview[J]. BMC Med Genomics, 2015, 8 (Suppl 1):S4.
9
Coronado R, Macaya Ruíz A, Giraldo Arjonilla J, et al. Concordance between a head circumference growth function and intellectual disability in relation with the cause of microcephaly[J]. An Pediatr (Barc), 2015, 83(2):109-116.
10
Vannucci RC, Barron TF, Vannucci SJ, et al. Craniometric measures of microcephaly using MRI[J]. Early Hum Dev, 2012, 88(3):135-140.
11
Vannucci RC, Barron TF, Lerro D, et al. Craniometric measures during development using MRI[J]. Neuroimage, 2011, 56(4):1855-1864.
12
Piro E, Antona V, Consiglio V, et al. Microcephaly a clinical-genetic and neurologic approach[J]. Acta Medica Mediterranea, 2013, 29(2):327-331.
13
Ashwal S, Michelson D, Plawner L, et al. Practice parameter: evaluation of the child with microcephaly (an evidence-based review):report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society[J]. Neurology, 2009, 73(11):887-897.
14
Martines F, Martines E, Mucia M, et al. Prelingual sensorineural hearing loss and infants at risk: Western Sicily report[J]. Int J Pediatr Otorhinolaryngol, 2013, 77(4):513-518.
15
Salvago P, Martines E, Martines F, et al. Prevalence and risk factors for sensorineural hearing loss: Western Sicily overview[J]. Eur Arch Otorhinolaryngol, 2013, 270(12):3049-3056.
16
Gilmore EC, Walsh CA. Genetic causes of microcephaly and lessons for neuronal development[J]. Wiley Interdiscip Rev Dev Biol, 2013, 2(4):461-478.
17
Qvist P, Huertas P, Jimeno S, et al. CtIP mutations cause Seckel and Jawad syndromes[J]. PLoS Genet, 2011, 7(10):e1002310.
18
Hannekam R, van Rhijn A, Hannekam FA. Dominantly inherited microcephaly, short stature and normal intelligence[J]. Clin Genet, 1992, 41(5):248-251.
19
Jackson AP, Eastwood H, Bell SM, et al. Identification of microcephalin, a protein implicated in determining the size of the human brain[J]. Am J Hum Genet, 2002, 71(1):136-142.
20
Nicholas AK, Khurshid M, Désir J, et al. WDR62 is associated with the spindle pole and is mutated in human microcephaly[J]. Nat Genet, 2010, 42(11):1010-1014.
21
Bond J, Roberts E, Springell K, et al. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size[J]. Nat Genet, 2005, 37(4):353-355.
22
Genin A, Desir J, Lambert N, et al. Kinetochore KMN network gene CASC5 mutated in primary microcephaly[J]. Hum Mol Genet, 2012, 21(24):5306-5317.
23
Shen J, Eyaid W, Mochida GH, et al. ASPM mutations identified in patients with primary microcephaly and seizures[J]. J Med Genet, 2005, 42(9):725-729.
24
Kumar A, Girimaji SC, Duvvari MR, et al. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly[J]. Am J Hum Genet, 2009, 84(2):286-290.
25
Hussain MS, Baig SM, Neumann S, et al. A truncating mutation of cep135 causes primary microcephaly and disturbed centrosomal function[J]. Am J Hum Genet, 2012, 90(5):871-878.
26
Guernsey DL, Jiang H, Hussin J, et al. Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4[J]. Am J Hum Genet, 2010, 87(1):40-51.
27
Yang YJ, Baltus AE, Mathew RS, et al. Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation[J]. Cell, 2012, 151(5):1097-1112.
28
Awad S, Al-Dosari MS, Al-Yacoub N, et al. Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis[J]. Hum Mol Genet, 2013, 22(11):2200-2213.
29
Hussain MS, Baig SM, Neumann S, et al. CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly[J]. Hum Mol Genet, 2013, 22(25):5199-5214.
30
Mirzaa GM, Vitre B, Carpenter G, et al. Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism[J]. Hum Genet, 2014, 133(8):1023-1039.
31
Khan MA, Rupp VM, Orpinell M, et al. A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family[J]. Hum Mol Genet, 2014, 23(22):5940-5949.
32
Guemez-Gamboa A, Nguyen LN, Yang H, et al. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome[J].Nat Genet, 2015, 47(7):809-813.
33
Yamamoto S, Jaiswal M, Charng WL, et al. A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases[J]. Cell, 2014, 159(1):200-214.
34
Mahmood S, Ahmad W, Hassan MJ. Autosomal recessive primary microcephaly (MCPH):clinical manifestations, genetic heterogeneity and mutation continuum[J]. Orphanet J Rare Dis, 2011, 6:39.
35
Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay[J]. Nat Genet, 2011, 43(9):838-846.
36
Basel-Vanagaite L, Dobyns WB. Clinical and brain imaging heterogeneity of severe microcephaly[J]. Pediatr Neurol, 2010, 43(1):7-16.
37
Piccione M, Serra G, Sanfilippo C, et al. A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus[J]. Minerva Pediatr, 2012, 64(1):59-64.
38
de Leeuw N, Dijkhuizen T, Hehir-Kwa JY, et al. Diagnostic interpretation of array data using public databases and internet sources[J]. Hum Mutat, 2012, 33(6):930-940.
39
Rump P, Jazayeri O, van Dijk-Bos KK, et al. Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly[J]. BMC Med Genomics, 2016, 9(1):7.
40
Dyment DA, Sawyer SL, Chardon JW, et al. Recent advances in the genetic etiology of brain malformations[J]. Curr Neurol Neurosci Rep, 2013, 13(8):364.
41
Rabbani B, Mahdieh N, Hosomichi K, et al. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders[J]. J Hum Genet, 2012, 57(10):621-632.
42
Tetreault M, Bareke E, Nadaf J, et al. Whole-exome sequencing as a diagnostic tool:current challenges and future opportunities[J]. Expert Rev Mol Diagn, 2015, 15(6):749-760.
43
Stranneheim H, Wedell A. Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders[J]. J Intern Med, 2016, 279(1):3-15.
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