由于COL7A1基因中的甘氨酸替代突变导致的瘙痒性大疱性表皮松解症。 - Suppr

Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene.

作者信息

Broekaert Sigrid M C, Knauss-Scherwitz Evelin, Biedermann Tilo, Metzler Gisela, Has Cristina, Kohlhase Jürgen, Röcken Martin, Schaller Martin

出版信息

Acta Derm Venereol. 2006;86(6):556-7. doi: 10.2340/00015555-0147.

DOI:10.2340/00015555-0147

PMID:17106611

Abstract

摘要

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Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene.

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A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.

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Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.

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The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.

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The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.

J Med Genet. 2011 Mar;48(3):160-7. doi: 10.1136/jmg.2010.082230. Epub 2010 Nov 26.

A Japanese family with dominant pretibial dystrophic epidermolysis bullosa: Identification of a new glycine substitution in the triple-helical collagenous domain of type VII collagen.

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In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive.

Acta Derm Venereol. 2011 May;91(3):259-61. doi: 10.2340/00015555-1131.

Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.

Acta Derm Venereol. 2011 May;91(3):262-6. doi: 10.2340/00015555-1053.

引用本文的文献

An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.

Pediatr Dermatol. 2012 Nov-Dec;29(6):725-31. doi: 10.1111/j.1525-1470.2012.01757.x. Epub 2012 Apr 20.

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Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene.

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