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Apert综合征患儿FGFR2基因突变及临床分析 被引量：8

FGFR2 gene mutation and clinical phenotype in a Chinese girl with Apert syndrome
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摘要 目的研究Apert综合征患儿成纤维细胞生长因子受体2(FGFR2)基因突变及临床特点。方法采集1例Apert综合征患儿及其父母的外周血,提取基因组DNA,应用PCR扩增FGFR2基因第7和第9外显子,对PCR产物进行双向测序检测基因突变。检索PubMed和中国知网数据库中相关文献进行系统分析。结果在患儿FGFR2基因的第7外显子的934碱基发生杂合突变,由C转变为G,导致FGFR2蛋白第252位由丝氨酸变为色氨酸(S252W),患儿父母均未检测到该基因突变。文献检索国内外已报道14例Aperto综合征患儿,其中5例进行FGFR2基因突变分析,4例为S252W突变,1例为外显子IIIb/IIIc之间杂合缺失突变。结论该例Apert综合征患儿由FGFR2基因934 C→G的杂合突变所致。 Objectives To explore the clinical phenotype and FGFR2 gene mutation of patients with Apert syndrome. Methods DNA was extracted from peripheral blood samples of a child with Apert syndrome and her parents. The exons 7 and 9 of FGFR2 gene were amplified by PCR using bi-directional sequencing. Systematic analysis of relevant literature from PubMed and CNKI database were conducted. Results A heterozygous 934 C to G mutation in exon 7 of the FGFR2 gene was found in the patient, which resulted in the substitution of serine （S） for tryptophan （W） at position 252 FGFR2 protein. No mutation was de- tected from parents. Fourteen cases with AS have been reported from the searched databases. Mutation analysis ofFGFR2 gene was conducted in 5 patients and 4 of these 5 patients were with S252Wmutation, and one with heterozygous deletion in the linker region between exon IIIb and IIIc. Conclusion This Chinese girl with AS results from the 934 C to G mutation in exon 7 of FGFR2 gene.
作者 王艳 郑勇 吴虹林 刘欣 王春枝 何玺玉
机构地区 北京军区总医院附属八一儿童医院临床遗传学中心北京 解放军
出处 《临床儿科杂志》 CAS CSCD 北大核心 2013年第5期447-450,共4页 Journal of Clinical Pediatrics
关键词 APERT综合征 FGFR2基因 突变 Apert syndrome FGFR2 gene mutation
分类号 R725 [医药卫生—儿科]
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参考文献19

  • 1Herman TE, Siegel MJ. Apert syndrome with omphalo-cele [J].JPerinatol,2010,30(10):695-697.
  • 2Park WJ, Theda C, Maestri NE, et al. Analysis of pheno-typic features and FGFR2 mutations in Apert syndrome [J].Am J Hum Genet, 1995,57(2): 321-328.
  • 3Slaney SF, Oldridge M, Hurst JA, et al. Differential effectsof FGFR2 mutations on syndactyly and cleft palate in Apertsyndrome [J]. Am J Hum Genet, 1996,58(5): 923-932.
  • 4Mantilla-Capacho JM, Arnaud L, Diaz-Rodriguez M, etal. Apert syndrome with preaxial polydactyly showing thetypical mutation Ser252Trp in the FGFR2 gene [J]. GenetCouns,2005,16(4):403-406.
  • 5Allanson JE. Germinal mosaicism in Apert syndrome [J].Clin Genet, 1986,29(5):429-433.
  • 6Wilkie AO, Slaney SF, Oldridge M, et al. Apert syndromeresults from localized mutations of FGFR2 and is allelic withCrouzon syndrome [J], Nat Genet, 1995,9(2): 165-172.
  • 7Oldride M,Zackai EH, McDonald-McGinn DM, et al.De novo alu-element insertions in FGFR2 identify a dis-tinct pathological basis for Apert syndrome [J]. Am J HumGenet. 1999,64(2):446-461.
  • 8Girisha KM, Phadke SR, Khan F, et al. S252W mutationin Indian patients of Apert syndrome [J]. Indian Pediatr,2006,43(8):733-735.
  • 9Fenwick AL, Bowdin SC, Klatt RE, et al. A deletion ofFGFR2 creating a chimeric Illb/IIIc exon in a child withApert syndrome [J]. BMC Med Genet,2011,12: 122.
  • 10李娜娜,李艳华,邓莹,等.1例不典型Apert综合征的遗传学分析[J].中国科技论文在线.

二级参考文献20

  • 1Apert ME.Del' acrocephalosyndactylie.Bull Mem Soc Med Hop Paris,1906,23:1310 1330.
  • 2Mantilla-Capacho JM,Arnaud L,Diaz-Rodriguez M,et al.Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.Genet Couns,2005,16:403-406.
  • 3Allanson JE.Germinal mosaicism in Apert syndrome.Clin Genet,1986,29:429-433.
  • 4Cohen MM Jr,Kreiborg S,Lammer EJ,et al.Birth prevalence study of the Apert syndrome.Am J Med Genet,1992,42:655-659.
  • 5Park WJ,Theda C,Maestri NE,et al.Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.Am J Hum Genet,1995,57:321-328.
  • 6Slaney SF,Oldridge M,Hurst JA,et al.Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.Am J Hum Genet,1996,58:923-932.
  • 7Upton J.Apert syndrome.Classification and pathologic anatomy of limb anomalies.Clin Plast Surg,1991,18:321 355.
  • 8Cohen MM Jr,Kreiborg S.Hands and feet in the Apert syndrome.Am J Med Genet,1995,57:82-96.
  • 9Matsumoto K,Urano Y,Kubo Y,et al.Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome.Plast Reconstr Surg,1998,101:307 311.
  • 10Wilkie AO,Slaney SF,Oldridge M,et al.Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.Nat Genet,1995,9:165 172.

共引文献8

同被引文献75

  • 1Park WJ, Theda C, Maestri NE, et al. Analysis of phenotypic features and FGFR2 mutation in Apert syndrome[J].Am J Hum Genet, 1995,57 (2) :321-328.
  • 2Slaney SF, Oldridge M, Hurst JA, et al. Differential effects of FGFR2 mutation on syndactyly and cleft palate in Apert syndrome[J].Am J Hum Genet, 1996, 58 (5) :923-932.
  • 3MantiUa-Capacho JM, Arnaud L, Diaz-Rodriguez M, et al. Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene[J].Genet Couns, 2005, 16 (4) : 403-406.
  • 4AUanson JE. Germinal mosaicism in Apert syndrome[J].Clin Genet, 1986, 29 (5) :429-433.
  • 5Fenwick AL, Bowdin SC, KlattRE, et al. A deletion of FGFR2 creating achimeric IIIb/Illc exon in a child with Apert syndrome[J]. BMC Med Genet, 2011, 12 : 122.
  • 6Girisha KM, Phadke SR, Khan F, et aI.S252W mutations in Indian patients of Apert syndrome[J].Indian Pediatr, 2006,43 (8) : 733-735.
  • 7李娜娜,李艳华,邓莹,等.1例不典型Apen综合征的遗传学分析[J].中国科技论文在线.
  • 8Wilkie AO, Slaney SF, Oldridge M, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome [J]. Nat Genet, 1995, 9(2): 165-172.
  • 9Fenwick AL, Bowdiu SC, Klatt RE, et al. A deletion of FGFR2 creating achimeric ]lI b/I]I c exon in a child with Apert syndrome [J]. BMC Med Genet, 2011, 12: 122-127.
  • 10Slaney SF, Oldridge M, Hurst JA, et al. Differential effects of FGFR2 mutation on syndactyly and cleft palate in Apert syndrome [J]. Am J Hum Genet, 1996, 58(5): 923-932.

引证文献8

二级引证文献14

临床儿科杂志
2013年 第5期

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