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多发性骨性连接综合征及其相关疾病的遗传学研究进展 被引量：1

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摘要 多发性骨性连接综合征及近端指/趾关节黏连症等为一组常染色体显性遗传的骨发育不全病。这组疾病大多与NOG基因的突变有关,但也存在一些遗传异质性。本文主要综述这组疾病在临床分型及遗传学研究方面的进展。
作者 顾鸣敏 王铸钢
机构地区 上海第二医科大学医学遗传学教研室
出处 《国外医学（遗传学分册）》 2005年第4期221-223,共3页 Foreign Medical Sciences(Section of Genetics )
基金 国家自然科学基金(No.30470951)
关键词 多发性骨性连接综合征 NOG基因突变 遗传异质性 遗传学研究 相关疾病 骨性连接 综合征 多发性 常染色体显性遗传 骨发育不全
分类号 R681 [医药卫生—骨科学]
  • 相关文献

参考文献17

  • 1Krakow D, Reinker K, Powell B, etal. Localization of a multiple synostoses syndrome disease gene to chromosome 17q21-q22. Am J Hum Genet, 1998,63:120-124.
  • 2Akarsu AN, Rezaie T, Demirtas M, et al. Multiple synostosis type-2(SYNS2) maps to 20q11.2 and caused by a missence mutation in the growth/differentiation factor-5 (GDF5). Am J Hum Genet, 1999,65(4): 1569.
  • 3Polymeropoulos MH, Poush J, Rubenstein JR, et al. Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22. Genomics, 1995,27:225-229.
  • 4Dixon ME, Armtrong P, Stevens DB, et al. Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. Genet Med, 2001,3:349-353.
  • 5Brown DJ, Kim TB, PettyEM, et al. Autosomal dominant staples ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. Am J Hum Genet, 2002,71(3) :618-624.
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同被引文献11

  • 1Fuhrmann W,Steffens CH,Rompe G.Dominant erbliche doppelseitige Dysplasie und Synostose des Ellenbogengelenks[J].Hum Genet,1966,3(1):64-77.
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  • 3Garofalo S,Kliger-Spatz M,Cooke JL,et al.Skeletal dysplasia and defective chondrocyte differentiation by targeted overexpression of fibroblast growth factor 9 in transgenic mice[J].J Bone Miner Res,1999,14(11):1909-1915.
  • 4Wu XL,Gu MM,Huang L,et al.Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene[J].Am J Hum Genet,2009,85(1):53-63.
  • 5Ng SB,Buckingham KJ,Lee C,et al.Exome sequencing identifies the cause of a mendelian disorder[J].Nat Genet,2010,42(1):30-35.
  • 6Krakow D,Reinker K,Powell B,et al.Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22[J].Am J Hum Genet,1998,63 (1):120-124.
  • 7Akarsu AN,Rezaie T,Demirtas M,et al.Multiple synostosis type-2 (SYNS2) maps to 20q11.2 and caused by a missense mutation in the growth/differentiation factor-5 (Gdf5)[J].Am J Hum Genet,1999,65(Suppl):1569.
  • 8Gong Y,Krakow D,Marcelino J,et al.Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis[J].Nat Genet,1999,21(3):302-304.
  • 9Dawson K,Seeman P,Sebald E,et al.GDF5 is a second locus for multiple-synostosis syndrome[J].Am J Hum Genet,2006,78(4):708-712.
  • 10Kruglyak L,Daly MJ,Reeve-Daly MP,et al.Parametric and nonparametric linkage analysis:a unified multipoint approach[J].Am J Hum Genet,1996,58(6):1347-1363.

引证文献1

国外医学（遗传学分册）
2005年 第4期

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