RGD Reference Report - Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. - Rat Genome Database

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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

Authors: Smith, FJ  Irvine, AD  Terron-Kwiatkowski, A  Sandilands, A  Campbell, LE  Zhao, Y  Liao, H  Evans, AT  Goudie, DR  Lewis-Jones, S  Arseculeratne, G  Munro, CS  Sergeant, A  O'Regan, G  Bale, SJ  Compton, JG  DiGiovanna, JJ  Presland, RB  Fleckman, P  McLean, WH 
Citation: Smith FJ, etal., Nat Genet. 2006 Mar;38(3):337-42. Epub 2006 Jan 29.
RGD ID: 1598947
Pubmed: PMID:16444271   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1743   (Journal Full-text)

Ichthyosis vulgaris (OMIM 146700) is the most common inherited disorder of keratinization and one of the most frequent single-gene disorders in humans. The most widely cited incidence figure is 1 in 250 based on a survey of 6,051 healthy English schoolchildren. We have identified homozygous or compound heterozygous mutations R501X and 2282del4 in the gene encoding filaggrin (FLG) as the cause of moderate or severe ichthyosis vulgaris in 15 kindreds. In addition, these mutations are semidominant; heterozygotes show a very mild phenotype with incomplete penetrance. The mutations show a combined allele frequency of approximately 4% in populations of European ancestry, explaining the high incidence of ichthyosis vulgaris. Profilaggrin is the major protein of keratohyalin granules in the epidermis. During terminal differentiation, it is cleaved into multiple filaggrin peptides that aggregate keratin filaments. The resultant matrix is cross-linked to form a major component of the cornified cell envelope. We find that loss or reduction of this major structural protein leads to varying degrees of impaired keratinization.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FLGHumanichthyosis vulgaris  IAGP DNA:nonsense mutation more ...RGD 
FlgRatichthyosis vulgaris  ISOFLG (Homo sapiens)DNA:nonsense mutation more ...RGD 
FlgMouseichthyosis vulgaris  ISOFLG (Homo sapiens)DNA:nonsense mutation more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Flg  (filaggrin)

Genes (Mus musculus)
Flg  (filaggrin)

Genes (Homo sapiens)
FLG  (filaggrin)


Additional Information