Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations

British Journal of Dermatology

Volumn 161, Issue 2, 2009, Pages 448-451

  Hsu, C K ^a,b   Akiyama, M ^a   Nemoto Hasebe, I ^a   Nomura, T ^a,c   Sandilands, A ^c   Chao, S C ^b   Lee, J Y Y ^b   Sheu, H M ^b   McLean, W H I ^c   Shimizu, H ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

Atopic eczema; Filaggrin; FLG; Ichthyosis; Mutation

Indexed keywords

FILAGGRIN; INTERMEDIATE FILAMENT PROTEIN;

ARTICLE; ASIAN; CAUCASIAN; ETHNOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HUMAN; ICHTHYOSIS VULGARIS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; TAIWAN;

ASIAN CONTINENTAL ANCESTRY GROUP; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; ICHTHYOSIS VULGARIS; INTERMEDIATE FILAMENT PROTEINS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; TAIWAN;

EID: 72649099660     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2009.09112.x     Document Type: Article

References (12)

1. Sybert VP, Dale BA, Holbrook KA. Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. J Invest Dermatol 1985; 84: 191-4.
2. Smith FJ, Irvine AD, Terron-Kwiatkowski A et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006; 38: 337-42.
3. Akiyama M, Shimizu H. An update on molecular aspects of the non-syndromic ichthyoses. Exp Dermatol 2008; 17: 373-82.
4. Sandilands A, Terron-Kwiatkowski A, Hull PR et al. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 2007; 39: 650-4.
5. O'Regan GM, Sandilands A, McLean WHI, Irvine AD. Filaggrin in atopic dermatitis. J Allergy Clin Immunol 2008; 122: 689-93.
6. Nomura T, Akiyama M, Sandilands A et al. Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. J Invest Dermatol 2008; 128: 1436-41.
7. Nomura T, Akiyama M, Sandilands A et al. Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Invest Dermatol 2008; DOI 10.1038/jid.2008.372.
8. Chen H, Ho JC, Sandilands A et al. Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. J Invest Dermatol 2008; 128: 1669-75.
9. Nomura T, Sandilands A, Akiyama M et al. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol 2007; 119: 434-40.
10. Hamada T, Sandilands A, Fukuda S et al. De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis. J Invest Dermatol 2008; 128: 1323-5.
11. Elias PM, Hatano Y, Williams ML. Basis for the barrier abnormality in atopic dermatitis: outside-inside-outside pathogenic mechanisms. J Allergy Clin Immunol 2008; 121: 1337-43.
12. Nemoto-Hasebe I, Akiyama M, Nomura T et al. Clinical severity correlates with impaired barrier in filaggrin-related eczema. J Invest Dermatol 2009; 129: 682-9.