Linked Life Data

8541842

Source:http://linkedlifedata.com/resource/pubmed/id/8541842

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
1996-2-14
pubmed:abstractText
Pretibial epidermolysis bullosa (PEB) is a rare variant of dominant dystrophic EB (DDEB) in which recurrent blistering with scarring predominantly involves the pretibial skin. Although blistering appears to be localized clinically, electron microscopy of the dermalepidermal junction in patients with PEB reveals anchoring fibril abnormalities that are not restricted to the predilection sites. Furthermore, PEB cannot be distinguished from the generalized (Cockayne-Touraine and Pasini) types of DDEB on the basis of anchoring fibril morphology alone. The generalized forms of DDEB have been linked to the type VII collagen gene (COL7A1) on chromosome 3p21. In this study, we sought to test the hypothesis that mutations underlying PEB also reside in COL7A1. We initiated mutational analysis in COL7A1 in a large five-generation PEB family of Taiwanese descent. We identified a G-to-T transversion at nt position 7867, which results in a glycine-to-cysteine substitution (G2623C) in exon 105. This mutation was confirmed in affected family members using the loss of a SmaI restriction site, and when used for linkage analysis, together with an intragenic PvuII polymorphism and several flanking markers, resulted in a LOD score of Z = 3.61 at theta = 0 in this family. This is the first demonstration of genetic linkage and mutation analysis in PEB, and illustrates that the Cockayne-Touraine, Pasini, and now the pretibial clinical variants of DDEB are allelic, resulting from different glycine substitution mutations in the type VII collagen gene.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1579-83
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.
pubmed:affiliation
Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't