2026-03-13T11:24:25Z https://hirosaki.repo.nii.ac.jp/oai

oai:hirosaki.repo.nii.ac.jp:00003601 2023-05-15T10:17:02Z 557:1754615242943:561:641

Novel COL7A1 Mutations of Hallopeau-Siemens Type Recessive Dystrophic Epidermolysis Hallopeau-Siemens型劣性栄養障害型表皮水疱症における新規COL7A1ミスセンス変異 Hallopeau-Siemensガタ レッセイ エイヨウ ショウガイガタ ヒョウヒ スイホウショウ ニ オケル シンキ COL7A1 ミスセンス ヘンイ Murai, Takaya Tamai, Katsuto Nakano, Hajime Hanada, Katsumi Hashimoto, Isao Sawamura, Daisuke 494.8 外科系臨床医学 dystophic epidermolysis bullosa Hallopeau-Siemens type type VII collagen missense mutations 栄養障害型表皮水疱症 Hallopeau-Siemens型 ＶＩＩ型コラーゲン ミスセンス変異 application/pdf Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the COL7A] gene encoding type VII collagen. DEB is clinically characterized by mucocutaneous blistering in response to minor trauma. followed by scarring and nail dystrophy. DEB is inherited in either an autosomal dominant (DDEB) or recessive (RDEB) fashion. DDEB basically results from a glycine substitution mutation within the collagenous domain on one COL7A1 allele. while a combination of mutations such as premature termination codon. missense. splice-site mutations on both alleles causes RDEB. In this study, we examined a Japanese EB boy with generalized blistering and scar formation. and made a diagnosis of the Hallopeau-Siemens type RDEB (HS-RDEB). the most severe form of RDEB. Mutational analysis of the COL7A1 gene revealed a novel missense mutation A80P and a novel nonsense mutation Q1211X. In general, HS-RDEB is caused by combination of premature termination codon mutations. but 3 HS-RDEB cases have been reported to have combination of premature termination codon and missense mutations one of which was S48P. This study suggests that even missense mutation, which leads to substitution for proline in amino terminal end of type VII collagen. can cause HS-RDEB. 弘前医学. 59, 2007, p.15-22 弘前大学大学院医学研究科・弘前医学会 2007-11-15 eng departmental bulletin paper VoR http://hdl.handle.net/10129/690 https://hirosaki.repo.nii.ac.jp/records/3601 AN00211444 0439-1713 弘前医学 59 1 15 22 https://hirosaki.repo.nii.ac.jp/record/3601/files/AN00211444_59_15.pdf application/pdf 2.0 MB 2018-03-13