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 |
Research Field |
Dermatology
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Research Institution | Hokkaido University |
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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Project Status |
Completed (Fiscal Year 2013)
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Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2012: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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Keywords | 遺伝性角化症 / 魚鱗癬 |
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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Report
(3 results)
Research Products
(6 results)
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[Journal Article] Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate2014
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 Derm Venereol
Volume: in press
Issue: 1
Pages: 110-111
DOI
Related Report
Peer Reviewed / Open Access
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