A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome

Clinical and Experimental Dermatology

Volumn 27, Issue 3, 2002, Pages 243-246

  O'Driscoll, J ^a   Muston, G C ^a   McGrath, J A ^b   Lam, H M ^c   Ashworth, J ^a   Christiano, A M ^c  

^a STEPPING HILL HOSPITAL   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c College of Physicians and Surgeons ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LORICRIN; POLYPEPTIDE;

ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL DIFFERENTIATION; CELL NUCLEUS; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE COURSE; EPIDERMIS CELL; GENE INSERTION; GENODERMATOSIS; HUMAN; ICHTHYOSIS; KERATODERMA; NUCLEOTIDE SEQUENCE; OSTEOLYSIS; PEDIGREE; PRIORITY JOURNAL; TRANSGENIC MOUSE; UNITED KINGDOM; VOHWINKLE SYNDROME;

FEMALE; HUMANS; ICHTHYOSIS; KERATODERMA, PALMOPLANTAR; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 0036281127     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2230.2002.01031.x     Document Type: Article

References (11)

1. Keratoderma hereditaria mutilans
2. Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome)
3. Autosomal dominant congenital ichthyosis and keratoderma hereditaria mutilans of Vohwinkel's
4. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome
5. Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis
6. A novel insertional mutation in loricrin in Vohwinkel's keratoderma
7. Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome
8. A missense mutation in connexin 26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
9. The molecular pathology of progressive symmetric erythro-keratoderma: A frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope
10. Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma
11. Loricrin and human skin diseases: Molecular basis of loricrin keratodermas