[J].Journal of Clinical Pediatric Surgery,2011,10(02):119-120.
6例Currarino综合征HLXB9基因突变的探讨
- 关键词:
- ; Currarino综合征; 基因
- 文献标志码:
- A
- 摘要:
- 【摘要】目的研究Currarino综合征患者HLXB9基因突变情况。方法采用PCR、DNA直接测序的方法对6例Currarino综合征进行HLXB9突变检测，突变经双向测序证实。结果2例家族性Currarino综合征患儿中均发现1种新的杂合无义突变（c.552C＞G; p.Tyr184X），而4例散发性病例未发现异常。结论Currarino综合征与HLXB9基因相关，2例家族性病例HLXB9基因突变检出率与国外类似，4例散发性病例检出率低于报道的30%。
参考文献/References:
1Currarino G,Coln D,Votteler T.Triad of anorectal, sacral, and presacral anomalies\[J\].AJR Am J Roentgenol,1981,137:395—398.
2Yates VD, Wilroy RS, Whitington L, Simmons JCH. Anterior sacral defects: an autosomal dominantly inherited condition\[J\].J Pediatr 1983,102:239—242.
3Ross AJ,RuizPerez V,Wang Y,et al.A homeobox gene, HLXB9, isthe major locus for dominantly inherited sacral agenesis\[J\].Nat Genet 1998,20:358—361.
4Crétolle C, Pelet A, et al. Spectrum of HLXB9 gene mutations in Currarino syndrome and genotypephenotype correlation\[J\].Hum Mutat, 2008,29(7):903—910.
5M Samuel,G Hosie,K Holmes . Currarino triaddiagnostic dilemma and a combined surgical approach\[J\].Journal of Pediatric Surgery, 2000,35,(12): 1790—1794.
6GarciaBarceló MM,Lui VC,et al.MNX1 (HLXB9) mutations in Currarino patients\[J\].J Pediatr Surg,2009,44(10):1892—1898.
7Lynch SA,Wang Y,Strachan T,et al.Autosomal dominant sacral agenesis: Currarino syndrome\[J\].J Med Genet,2000,37:561—566.
8GarciaBarcelo M,So MT,Lau DK,et al.Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome\[J\].Clin Chem,2006,52:46—52.
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