Novel missense mutation of keratin in Chinese family with steatocystoma multiplex

Journal of the European Academy of Dermatology and Venereology

Volumn 23, Issue 6, 2009, Pages 723-724

  Wang, J F ^a,b   Lu, W S ^a,b   Sun, L D ^a,b   Lv, Y M ^a,b   Zhou, F S ^b   Fang, Q Y ^b   Tang, H Y ^a,b   Cui, Y ^a,b   Yang, S ^a,b   Zhang, X J ^a,b  

^a ANHUI MEDICAL UNIVERSITY   (China)

^b BEIJING UNIVERSITY OF POSTS AND TELECOMMUNICATIONS   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 17; KERATIN;

BLOOD ANALYSIS; CASE REPORT; CHINESE; CONTROLLED STUDY; HUMAN; LETTER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEBACEOUS CYST; SEQUENCE ANALYSIS;

CHINA; EPIDERMAL CYST; HUMANS; KERATINS; MUTATION, MISSENSE;

EID: 67649726495     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2009.03180.x     Document Type: Letter

References (8)

1. Moritz DL, Silverman RA. Steatocystoma multiplex treated with isotretinoin: a delayed response. Cutis 1988 42 : 437 439. (Pubitemid 19005564)
2. Covello SP, Smith FJ, Sillevis Smitt JH et al. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol 1998 139 : 475 480. (Pubitemid 28430466)
3. Steinert PM, Yang JM, Bale SJ, Compton JG. 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.
4. McLean WH, Rugg EL, Lunny DP et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 1995 9 : 273 278.
5. Terrinoni A, Smith FJ, Didona B et al. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. J Invest Dermatol 2001 117 : 1391 1396. (Pubitemid 34032764)
6. Smith FJ, Corden LD, Rugg EL et al. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. J Invest Dermatol 1997 108 : 220 223. (Pubitemid 27061036)
7. Wang X, Shi Y, Ye Y et al. [Keratin 17 gene mutation in patients with steatocystoma multiplex.] Zhonghua Yi Xue Za Zhi 2001 81 : 540 543 (in Chinese).
8. Feng YG, Xiao SX, Ren XR, Wang WQ, Liu A, Pan M. Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts. Br J Dermatol 2003 148 : 452 455. (Pubitemid 36461323)