지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 739 - 742 (4page)
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초록· 키워드
오류제보하기
Epidermolysis bullosa simplex (EBS), an inherited geneticdisorder, is most often caused by a dominant-negative mutationin either the keratin 5 (KRT5) or the keratin 14 (KRT14)gene. These keratin mutants result in a weakened cytoskeletonand cause extensive cytolysis. It is important to analyzethe KRT5 or KRT14 genes of the patient and their familymembers by mutational analysis in order to identify geneticdefects as well as the need for genetic counseling. In thisstudy, we present a 5-year-old Korean boy who had beendeveloping blisters and erosions on the palms of his handsand soles of his feet since infancy. In addition, while hisyounger sister and father showed similar clinical manifestation,his mother did not. The patient was diagnosed withEBS based on clinical manifestation, which is characterizedby the presence of blisters restricted to the palms and soles,histological findings, and mutational analysis. Mutationalanalysis of the patient’s DNA revealed a thymine-to-cytosinetransition at codon 608 in the KRT-5 gene, resulting in aleucine-to-proline substitution in the keratin 5 protein. Thesame mutation was identified in the paternal, but notmaternal, DNA. Here, we report a case of Weber-Cockaynetype EBS with vesicles and bullae restricted to the palms andsoles with a novel, paternally inherited mutation in KRT5gene (exon2, c.608T>C).
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참고문헌 (8)
참고문헌 신청
Cummins RE / 2001 / Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes / J Invest Dermatol 117 : 1103 ~ 1107
Fine JD / 2000 / Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of ep
Fuchs EV / 1999 / Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry / Johns Hopkins University Pres
Irvine AD / 2003 / The molecular genetics of the genodermatoses: progress to date and future directions / Br J Dermatol 148 : 1 ~ 13
Schweizer J / 2006 / New consensus nomenclature for mammalian keratins / J Cell Biol 174 : 169 ~ 174
Fine JD / 2000 / Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of ep
Fuchs EV / 1999 / Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry / Johns Hopkins University Pres
Irvine AD / 2003 / The molecular genetics of the genodermatoses: progress to date and future directions / Br J Dermatol 148 : 1 ~ 13
Schweizer J / 2006 / New consensus nomenclature for mammalian keratins / J Cell Biol 174 : 169 ~ 174
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