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先天性秃发/少毛症的遗传学研究进展 被引量：7

Advances in genetics of congenital alopecia/hypotrichosis
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摘要 先天性秃发/少毛症是一组罕见的单基因遗传性脱发疾病。临床表现为先天性毛发局限或弥漫性缺失或稀少,头皮活检可发现毛囊稀少或缺如,毛球部萎缩。近年来,随着分子遗传学技术的发展,越来越多的致病基因被发现,包括APCDD1、RPL21、CDSN、U2HR、KRT74、KRT71、LPAR6、HR及LIPH等。这些研究成果可为先天性秃发发病机制的研究、治疗及产前诊断提供参考和重要依据。
作者 宋闯 范卫新
机构地区 南京医科大学第一附属医院皮肤性病科
出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2014年第12期753-758,共6页 Journal of Clinical Dermatology
关键词 先天性秃发 遗传学 基因 突变
分类号 R758.71 [医药卫生—皮肤病学与性病学]
  • 相关文献

参考文献20

  • 1Shimomura Y, Aqalliu D, Vonica A, et al. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotriehosis simplex[J]. Na- ture, 2010, 464(7291): 1043-1047.
  • 2Li M, Cheng R, Zhuang Y, et al. A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex ira a large Chinese family[J]. Br J Dermatol, 2012, 167(4): 952-954.
  • 3Zhou C, Zang D, Jin Y, et al. Mutation in ribosomal protein L21 underlies hereditary hypotriehosis simplex [J]. Hum Mutat, 2011, 32(7): 710-714.
  • 4Levy-Nissenbaum E, Betz RC, Frydman M, et al. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding Corneodesmosin[J]. Genet, 2003, 34(2): 151-153.
  • 5Wen Y, Liu Y, Xu Y, et al. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis [J]. Nat Genet, 2009, 41(2): 228-233.
  • 6Ito T, Shimomura Y, Oqai M, et al. Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis[J]. J Dermatol 2013, 40(4): 278-280.
  • 7Zhang X, Guo BR, Cai LQ, et al. Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis[J]. J Med Genet, 2012, 49(12): 727-730.
  • 8Shimomura Y, Wajid M, Petukhoval, et al. Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture [J]. Am J Hum Genet, 2010, 86(4): 632-638.
  • 9Wasif N, Naqvi SK, Basit S, et aL Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families [J]. Hum Genet, 2011, 129(4): 419-424.
  • 10Chapalain V, Winter H, I.,angbein L, et al. Is the loose anagen hair syndrome a keratin disorder? A clinical and molecular study[J]. Arch Dermatol, 2002, 138(4): 501-506.

二级参考文献3

  • 1Tosti A,Peluso AM,Misciali C,et al.Loose anagen hair[J].Arch Dermatol,1997,133(9):1089-1093.
  • 2Uno H,Cappas A,Dong S,et al.Abnormal keratinization of the inner root sheath and cuticles of hair follicles in the scalp with"loose anagen syndrome"[J].J Invest Dermatol,1989,92(4):536.
  • 3Tosti A,Piraccini BM.Loose anagen hair syndrome and loose anagen hair[J].Arch Dermatol,2002,138(4):521-522.

共引文献3

同被引文献43

  • 1无,周城,章星琪,范卫新,张建中.中国斑秃诊疗指南(2019)[J].临床皮肤科杂志,2020,0(2):69-72. 被引量：104
  • 2Branisteanu DE, Voicu CM, Branisteanu DC. Alopecia-achallenge for dermatologists[J]. Rev Med Chir Soc MedNat Iasi,2014,118(1) :11 -18.
  • 3Bennassar A, Ferrando J,Grimalt R. Congenital atrichiaand hypotrichosis[J]. World J Pediatr,2011,7(2) :111-117.
  • 4Messenger AG,McKillop J,Farrant P,et al. British associ-ation of dermatologists, guidelines for the managementof alopecia areata 2012 [ J]. Br J Dermatol,2012,166(8):916 -926.
  • 5Ross EK,Vincenzi C,Tosti A. Videodermoscopy in the e-valuation of hair and scalp disorders [ J ]. J Am AcadDermatol,2006,55(8) :799 -806.
  • 6Tosti A. Dermoscopy of hair and scalp disorders: Withclinical and pathological correlations[M]. Informa:CRCPress,2007.
  • 7Shimomura Y’Agalliu D,Vonica A,et al. APCDD1 is a no-vel Wnt inhibitor mutated in hereditary hypotrichosis sim-plex[ J]. Nature,2010,464(16) =1043 -1047.
  • 8Zhou C,Zang D,Jin Y,et al. Mutation in ribosomal pro-tein L21 underlies hereditary hypotrichosis simplex [ J ].Human Mutation,2011,32(10) :710-714.
  • 9Wen Y,Liu Y,Xu Y,et al. Loss-of-function mutations of aninhibitory upstream ORF in the human hairless transcriptcause Marie Unna hereditary hypotrichosis [ J ]. NatureGenetics,2009,41(4) :228 -233.
  • 10Levy-Nissenbaum E,Betz RC,Frydman M,et al. Hypotri-chosis simplex of the scalp is associated with nonsensemutations in CDSN encoding corneodesmosin [ J ]. Na-ture Genetics,2003,34(2) :151 -153.

引证文献7

二级引证文献8

临床皮肤科杂志
2014年 第12期

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