A novel insertional mutation in loricrin in Vohwinkel's keratoderma

JOURNAL OF INVESTIGATIVE DERMATOLOGY

卷:111

Article

Armstrong, DKB ; McKenna, KE ; Hughes, AE

关键词: bipartite nuclear localization signals;    cornified envelope;    ichthyosis;   

DOI  :  10.1046/j.1523-1747.1998.00343.x

来源: Elsevier

【 摘 要 】

A mutation in the gene encoding loricrin has recently been reported in a subset of patients with Vohwinkel's Keratoderma manifesting an associated ichthyosiform dermatosis. We have studied a further kindred with this clinical phenotype. Microsatellite marker analysis was consistent with linkage to chromosome 1q21 and direct sequencing ofloricrin identified a heterozygous mutation with an insertion of a T residue at codon 209, This mutation is predicted to produce a mutant protein with a frameshift of its terminal 107 amino acids and to be 22 amino acids longer than the wild-type protein due to a delayed termination codon. The only previously reported mutation is a G insertion producing a frameshift after codon 231. The novel mutation we report is likely to have a similar functional effect on cornified envelope formation, with disturbance of transglutaminase-mediated cross-linking of envelope components, and serves to confirm the predicted role of insertional mutations in Vohwinkel's Keratoderma associated with ichthyosis.

【 授权许可】

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