Filaggrin Gene Mutations in Asian Races
A total of 51 null mutations (28 nonsense mutations, 19 frameshift mutations, and 4 insertion mutations) in the filaggrin gene (FLG) have been identified in individuals with ichthyosis vulgaris, atopic dermatitis, or asthma from seven Asian populations (J
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Ruhong Cheng, Ming Li, Hui Zhang, and Zhirong Yao
Contents 13.1
Japanese .......................................................
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13.2
Singaporean Chinese...................................
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13.3
Mainland Chinese .......................................
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13.4
Taiwanese .....................................................
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13.5
Korean ..........................................................
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Bangladeshi and Pakistani .........................
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References ...............................................................
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R. Cheng, MD • M. Li, MD • H. Zhang, MD Z. Yao, MD (*) Department of Dermatology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Kongjiang Road 1665, Shanghai Shanghai 200092, China e-mail: [email protected]; [email protected]; [email protected]; [email protected]
Currently, a total of 51 null mutations in the filaggrin gene (FLG) have been identified in ichthyosis vulgaris (IV), atopic dermatitis (AD), and asthma patients from seven Asian populations (mainland Chinese, Taiwanese, Singaporean Chinese, Japanese, Korean, Pakistani, and Bangladeshi). Only three FLG mutations, R501X, 2282del4, and E2422X, are shared by European and Asian populations. But their weight in the spectrums of the two continents populations differs significantly. The mutation 3321delA is the most prevalent mutation in five Asian populations (Japanese, Singaporean Chinese, mainland Chinese, Taiwanese, and Korean) [1–7]; however, it has not been reported in European populations. The mutation R501X, also being identified in five Asian populations (Japanese, Singaporean Chinese, mainland Chinese, Bangladeshi, and Pakistani) and common in European populations, however, was rare in Asians [4, 5, 8–10]. The mutation Q2417X is common in mainland Chinese, Taiwanese, as well as Singaporean Chinese [1–4, 11, 12]. Each of the 12 FLG mutations, including 7 nonsense mutations (R826X, S1302X, S1515X, E2422X, S2706X, K4671X) and 4 frameshift mutations (441delA, 2282del4, 6950del8, 7945delA), has been found in two Asian populations [1, 4, 10, 12–14]. The remaining 39 (76.5 %) FLG mutations are population-specific or family-specific. Five nonsense mutations (S1695X, Q1701X, S2554X, S2889X, S3296X), originally identified in Japanese, have not yet been found in other Asian populations [5, 15, 16]. A total
J.P. Thyssen, H. Maibach (eds.), Filaggrin, DOI 10.1007/978-3-642-54379-1_13, © Springer-Verlag Berlin Heidelberg 2014
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R. Cheng et al.
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13.1
of 12 FLG mutations, including 5 frameshift mutations (1640delG, 2952delC, 4004del2, 4275del2, 8393delA), 5 nonsense mutations (G323X, Q368X, S406X, Q1745X, R4307X), and 2 insertion mutations (1249insG and 9040_9058dup), were shown to be specific to Singaporean Chinese [4, 12]. Nineteen FLG null variants, including 9 frameshift mutations (441-442delAG, 3222del4, 4026delT, 4271delAA, 5757del4, 6218-6219delAA, 6834del5, 7145del4, 8001del4), 9 nonsense mutations (Q1070X, R1140X, Q1256X, R1474X, Q1712X, Q1
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