2013 Fiscal Year Final Research Report
Identification of a novel gene mutation causing congenital ichthyosiform erythroderma and lamellar ichthyosis
| Project/Area Number |
24791130
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Dermatology
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| Research Institution | Hokkaido University |
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Principal Investigator |
OSAWA Rinko 北海道大学, 医学(系)研究科(研究院), 客員研究員 (50616349)
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Keywords | 遺伝性角化症 |
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| Research Abstract |
Mutation analysis in a patient with congenital ichthyosiform erythroderma who carries no mutation in any of the known causative genes was performed using whole-exome sequencing. No causative mutation was indeed identified in any of the known causative genes including TGM1, ABCA12, NIPAL4, CYP4F22, ALOXB12, ALOXE3. mRNA expression levels were subsequently analyzed, but no decrease in the expression levels were detected. Further mutation analysis of genes encoding keratinization-related proteins identified a mutation in KRT10. Now the pathogenicity of the mutation is being analyzed.
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[Journal Article] Punctate palmoplantar keratoderma type 1 : a novel AAGAB mutation and efficacy of etretinate
Author(s)
Nomura T, Yoneta A, Pohler E, Suzuki S, Osawa R, Mizuno O, Ohguchi Y, Nomura Y, Yamashita T, McLean WHI, Shimizu H
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Journal Title
Acta Dermato-Venereologica
Volume: (in press)
DOI
Peer Reviewed
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