TY - JOUR
T1 - Genetic basis of Bart's syndrome
T2 - A glycine substitution mutation in the type VII collagen gene
AU - Christiano, Angela M.
AU - Bart, Bruce J.
AU - Epstein, Ervin H.
AU - Uitto, Jouni
PY - 1996
Y1 - 1996
N2 - Bart's syndrome was initially described as a genodermatosis characterized by congenital localized absence of the skin, together with blistering and nail abnormalities. Recent analysis of Bart's original kindred demonstrated ultrastructural abnormalities in the anchoring fibrils and linkage of the inheritance of the disease to the region of chromosome 3 near the type VII collagen gene (COL7A1). We have performed mutation analysis in this family by using electrophoretic heteroduplex analysis followed by direct nucleotide sequencing of DNA. These results disclosed a G-to-A transition within exon 73 of COL7A1, which results in a glycine-to-arginine substitution within the triple-helical domain of type VII collagen in affected individuals. In this family, these findings demonstrate that Bart's syndrome is a clinical variant of dominant dystrophic epidermolysis bullosa.
AB - Bart's syndrome was initially described as a genodermatosis characterized by congenital localized absence of the skin, together with blistering and nail abnormalities. Recent analysis of Bart's original kindred demonstrated ultrastructural abnormalities in the anchoring fibrils and linkage of the inheritance of the disease to the region of chromosome 3 near the type VII collagen gene (COL7A1). We have performed mutation analysis in this family by using electrophoretic heteroduplex analysis followed by direct nucleotide sequencing of DNA. These results disclosed a G-to-A transition within exon 73 of COL7A1, which results in a glycine-to-arginine substitution within the triple-helical domain of type VII collagen in affected individuals. In this family, these findings demonstrate that Bart's syndrome is a clinical variant of dominant dystrophic epidermolysis bullosa.
KW - Anchoring fibrils
KW - Cutaneous basement membrane zone
KW - Dominant dystrophic epidermolysis bullosa
KW - Type VII collagen gene mutations
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U2 - 10.1111/1523-1747.ep12346304
DO - 10.1111/1523-1747.ep12346304
M3 - Article
C2 - 8618021
AN - SCOPUS:0029969527
SN - 0022-202X
VL - 106
SP - 778
EP - 780
JO - Journal of Investigative Dermatology
JF - Journal of Investigative Dermatology
IS - 4
ER -