Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population

British Journal of Dermatology

Volumn 160, Issue 5, 2009, Pages 1113-1115

  Sinclair, C ^a   O'Toole, E A ^a   Paige, D ^b   El Bashir, H ^b   Robinson, J ^b   Dobson, R ^a   Lench, N ^c   Stevens, H P ^d   Hitman, G A ^a   Booy, R ^b   Mein, C A ^a   Kelsell, D P ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b BARTS HEALTH NHS TRUST   (United Kingdom)

^c IMPERIAL COLLEGE LONDON   (United Kingdom)

^d BARNET HOSPITAL   (United Kingdom)

Author keywords

Bangladesh; Filaggrin; Ichthyosis vulgaris; Mutations

Indexed keywords

FILAGGRIN;

ARTICLE; BANGLADESH; COHORT ANALYSIS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HAPLOTYPE; HUMAN; ICHTHYOSIS VULGARIS; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL;

ASIAN CONTINENTAL ANCESTRY GROUP; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; ICHTHYOSIS VULGARIS; INTERMEDIATE FILAMENT PROTEINS; LONDON; MALE; MUTATION;

EID: 64849088898     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2009.09050.x     Document Type: Article

References (13)

1. Dale BA, Holbrook KA, Kimball JR et al. Expression of epidermal keratins and filaggrin during human fetal skin development. J Cell Biol 1985 101 : 1257 69.
2. Steinert PM, Cantieri JS, Teller DC et al. Characterisation of a class of cationic proteins that specifically interact with the intermediate filaments. Proc Natl Acad Sci USA 1981 78 : 4097 101.
3. Fleckman P, Holbrook KA, Dale BA et al. Keratinocytes cultured from subjects with ichthyosis vulgaris are phenotypically abnormal. J Invest Dermatol 1987 88 : 640 5.
4. Peña Penabad C, Pérez Arellano JL, Becker E et al. Differential patterns of filaggrin expression in lamellar ichthyosis. Br J Dermatol 1998 139 : 958 64.
5. 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.
6. Nirunsuksiri W, Zhang S-H, Fleckman P. Reduced stability and bi-allelic, coequal expression of profilaggrin mRNA in keratinocytes cultured from subjects with ichthyosis vulgaris. J Invest Dermatol 1998 110 : 854 61.
7. Smith FJD, 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.
8. Palmer CNA, Irvine AD, Terron-Kwiatkowski A et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006 38 : 441 6.
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. Sandilands A, O'Regan GM, Liao H et al. Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol 2006 126 : 1770 5.
11. 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.
12. 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.
13. Gruber R, Janecke AR, Fauth C et al. Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. Eur J Hum Genet 2006 15 : 179 84.