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Type VII Collagen Gene Mutations (c.8569G>T and c.4879G>A) Result in the Moderately Severe Phenotype of Recessive Dystrophic Epidermolysis Bullosa in a Korean Patient

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Author(s)
Jae-We ChoHajime NakanoKyu-Suk Lee
Keimyung Author(s)
Cho, Jae WeLee, Kyu Suk
Department
Dept. of Dermatology (피부과학)
Journal Title
Journal of Korean Medical Science
Issued Date
2009
Volume
24
Issue
2
Keyword
Epidermolysis Bullosa DystrophicaCOL7A1Mutation
Abstract
Dystrophic epidermolysis bullosa (DEB) are caused by mutations in the COL7A1 gene, which encodes type VII collagen. Even though more than 500 different COL7A1 mutations have been identified in DEB, it still remains to be under-investigated. To investigate the mutation of COL7A1 in moderately severe phenotype of recessive DEB (RDEB) in a Korean patient, the mutation detection strategy was consisted of polymerase chain reaction (PCR) amplification of genomic DNA, followed by heteroduplex analysis, nucleotide sequencing of the PCR products demonstrating altered mobility. In this study, we found that one mutation (c.8569G>T) was detected within exon 116. The mutation of c.8569G>T in exon 116 changed the GAG (Glu) to TAG, eventually resulted in premature termination of type VII collagen polypeptide. Furthermore the mother did not have the mutation c.8569G>T in exon 116. The other novel mutation (c.4879G>A) was detected within exon 51 of both patient and mother, thereby resulting in changing valine (Val) to isoleucine (Ile) in type VII collagen polypeptide. Taken together, in this study we identified compound heterozygosity for COL7A1 mutations (c.8569G>T and c.4879G>A) in moderately severe RDEB in a Korean patient. We hope that this data contribute to the expanding database on COL7A1 mutations in DEB.
Keimyung Author(s)(Kor)
조재위
이규석
Publisher
School of Medicine
Citation
Jae-We Cho et al. (2009). Type VII Collagen Gene Mutations (c.8569G>T and c.4879G>A) Result
in the Moderately Severe Phenotype of Recessive Dystrophic
Epidermolysis Bullosa in a Korean Patient. Journal of Korean Medical Science, 24(2), 256–261. doi: 10.3346/jkms.2009.24.2.256
Type
Article
ISSN
1011-8934
DOI
10.3346/jkms.2009.24.2.256
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/34133
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Dermatology (피부과학)
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