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先天性厚甲基因突变分析

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摘要 先天性厚甲（PC）是一组常染色体显性遗传的外胚层发育不良性遗传病,特征为指/趾甲营养不良和掌趾角化,由Jadassohn和Lewmldowsky于1906年首次报道[1]。PC的特征性表现为指/趾甲显著增厚、掌跖过度角化、毛囊角化病,舌和口腔黏膜白斑,偶尔累及喉部引起声音嘶哑[2]。1 PC分型传统上按症状PC主要分为2型：PC-1型和PC-2型,此外,还有一些罕见的变异,
作者 余平文 曹丽华
机构地区 中国医科大学临床医学系 中国医科大学医学基因组学教研室
出处 《山西医药杂志》 CAS 2014年第13期1515-1517,共3页 Shanxi Medical Journal
关键词 先天性厚甲 基因突变分析 常染色体显性遗传 掌趾角化 口腔黏膜白斑 发育不良性 甲营养不良 毛囊角化病
分类号 R758.5 [医药卫生—皮肤病学与性病学]
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参考文献24

  • 1Leachman SA, Kaspar RL, Fleckman P, et al. Clinical and path ological features of pachyonyehia congenita[J:. J Investig Derma tol Symp Proe, 2005,10(1 ) : 3-17.
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  • 6Leachman SA, Kaspar RL, Fleekman P, et al. Clinical and path- ological features of pachyonyehia congenita[J]. J Investig Derma- tol Symp Proe,2005,10(1) :3-17.
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  • 8Lv YM, Yang S, Zhang Z, et al. Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia con genita type l[J]. Br J Dermatol,2009,160(6) : 1327-1329.
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二级参考文献13

  • 1康晓静,孙淼,杨威,于敏,鞠强,罗会元,夏隆庆,张学.KRT6A基因I462S新生突变导致Ⅰ型先天性厚甲症[J].中华医学杂志,2004,84(16):1344-1347. 被引量：5
  • 2Irvine AD, McLean WHI. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol, 1999, 140:815-828.
  • 3Paller AS, Moore JA, Scher R. Pachyonychia congenita tarda. a late-onset form of pachyony chia congenita. Arch Dermatol, 1991, 127:701-703.
  • 4Feng YG, Xiao SX, Ren XR, et al. Keratin17 mutation in pachyonychia congenita type 2 with early-onset sebaceous cysts. Br J Dermatol, 2003, 148 : 452-455.
  • 5McLean WHI, Rugg EL, Lunny DP, et al. Keratin 16 and keratin 17 mutations cause pachyo nychia congenita. Nat Genet, 1995, 9: 273-276.
  • 6Hashiguchi T, Yotsumoto S, Shimada H, et al. A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenital type 2. J Invest Dermatol, 2002, 118:545-547.
  • 7Connors JB, Rahil AK, Smith FJD, et al. Delayed onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. Br J Dermatol, 2000, 41:175-177.
  • 8Terrinoni A, Smith FJD, Didona B, et al. Novel and recurrent mutation in the genes encoding keratin K6a, K16 and K17 in 13 cases of pachyonychia congenital. J Invest Dermatol, 2001, 117:1391-1396.
  • 9Steinert PM, Yang JM, Bale SJ, et al. Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses. Biochem Biophys Res Commun, 1993,197: 840-848.
  • 10Humphries MM, Mansergh FC, Kiang AS, et al. Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of ireland. Human Mutat,1996, 8:57-63.

共引文献5

山西医药杂志
2014年 第13期

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