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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.1
- 수록면
- 11 - 17 (7page)
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Background: Epidermolysis bullosa (EB) is a rare genetic disease with widely different clinical manifestations, but the relationship between genotype and phenotype is not fully understood. In the present study, we recruited a Chinese family in which two members had been diagnosed with localized EB simplex (EBS), with clinical manifestation, including blisters and erosions on the soles of the feet since infancy. Objective: To identify and confirm the genetic variation in a Chinese family diagnosed as localized EBS. Methods: Our study included two patients, other healthy members of the family, and 100 normal controls. Genomic DNA samples were isolated from each participant, and then polymerase chain reaction (PCR) direct sequencing was performed. Results: The results of PCR direct sequencing revealed a novel heterozygous missense mutation in codon 461 of exon 7 of KRT5 (c.1382T＞C), which led to an amino acid change (p.L461P) in the patients with EBS but was absent in unaffected family members and 100 unrelated control samples. Conclusion: The present study broadens the mutational spectrum of EBS, and this knowledge could be harnessed for prenatal screening, gene diagnosis, and gene therapy for localized EBS.
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등록된 정보가 없습니다.
참고문헌 (38)
참고문헌 신청
Uitto J / 2019 / Toward treatment and cure of epidermolysis bullosa / Proc Natl Acad Sci U S A 116:26147~26149
Bruckner-Tuderman L / 2019 / Newer treatment modalities in epidermolysis bullosa / Indian Dermatol Online J 10:244~250
Lee JYW / 2017 / Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex / J Invest Dermatol 137:1378~1380
Mellado F / 2018 / Ophthalmologic approach in epidermolysis bullosa : a crosssectional study with phenotype-genotype correlations / Cornea 37:442~447
Li JG / 2004 / A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex / Clin Exp Dermatol 29:539~541
Bruckner-Tuderman L / 2019 / Newer treatment modalities in epidermolysis bullosa / Indian Dermatol Online J 10:244~250
Lee JYW / 2017 / Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex / J Invest Dermatol 137:1378~1380
Mellado F / 2018 / Ophthalmologic approach in epidermolysis bullosa : a crosssectional study with phenotype-genotype correlations / Cornea 37:442~447
Li JG / 2004 / A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex / Clin Exp Dermatol 29:539~541
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