Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosis

Journal of Dermatological Science

Volumn 58, Issue 1, 2010, Pages 72-75

  Gruber, Robert ^a   Janecke, Andreas R ^a   Grabher, Daniela ^a   Sandilands, Aileen ^a   Fauth, Christine ^a   Schmuth, Matthias ^b  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b Medical Sciences Institute   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FILAGGRIN; LORICRIN; STERYL SULFATASE;

ADOLESCENT; ADULT; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ENVIRONMENTAL EXPOSURE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; ICHTHYOSIS VULGARIS; LETTER; MALE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; SKIN BIOPSY; X LINKED ICHTHYOSIS;

ADOLESCENT; GENOTYPE; HUMANS; ICHTHYOSIS, X-LINKED; INTERMEDIATE FILAMENT PROTEINS; MALE; MUTATION; PEDIGREE; STERYL-SULFATASE; YOUNG ADULT;

EID: 77950370771     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2010.01.002     Document Type: Letter

References (8)

1. Schmuth M., Gruber R., Elias P.M., Williams M.L. Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Adv Dermatol 2007, 23:231-256.
2. Bonifas J.M., Morley B.J., Oakey R.E., Kan Y.W., Epstein E.H. Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis. Proc Natl Acad Sci USA 1987, 84:9248-9251.
3. Elias P.M., Crumrine D., Rassner U., Hachem J.P., Menon G.K., Man W., et al. Basis for abnormal desquamation and permeability barrier dysfunction in RXLI. J Invest Dermatol 2004, 122:314-319.
4. Smith F.J., Irvine A.D., Terron-Kwiatkowski A., Sandilands A., Campbell L.E., Zhao Y., et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006, 38:337-342.
5. Gruber R., Janecke A.R., Fauth C., Utermann G., Fritsch P.O., Schmuth M. Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. Eur J Hum Genet 2007, 15:179-184.
6. Sandilands A., OóRegan G.M., Liao H., Zhao Y., Terron-Kwiatkowski A., Watson R.M., et al. Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol 2006, 126:1770-1775.
7. Liao H., Waters A.J., Goudie D.R., Aitken D.A., Graham G., Smith F.J., et al. Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. J Invest Dermatol 2007, 127:2795-2798.
8. Hoffjan S., Stemmler S. On the role of the epidermal differentiation complex in ichthyosis vulgaris, atopic dermatitis and psoriasis. Br J Dermatol 2007, 157:441-449.