Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
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营养不良性大疱性表皮松解症中 VII 型胶原蛋白基因 (COL7A1) 的甘氨酸取代突变：对遗传咨询的影响。
DOI：
10.1111/1523-1747.ep12335324
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发表时间：
1997
期刊：
影响因子：
--
通讯作者：
Uitto,J
中科院分区：
文献类型：
--
作者：
Kon,A;McGrath,JA;Pulkkinen,L;Nomura,K;Nakamura,T;Maekawa,Y;Christiano,AM;Hashimoto,I;Uitto,J
Dystrophic epidermolysis bullosa (DEB) is an inherited mechanobullous disorder characterized by fragility of the skin and mucous membranes. The anchoring fibril protein, type VII collagen, is encoded by COL7A1, which harbors mutations in this group of diseases. In this study, we report novel glycine substitution mutations in COL7A1 in two Japanese families with DEB. The mutation detection strategy consisted of PCR amplification of genomic DNA, followed by heteroduplex analysis and nucleotide sequencing of the PCR products demonstrating altered mobility. The first case is a patient with clinically severe recessive DEB. The proband was shown to have a homozygous glycine-to-valine substitution (G2671V) in exon 108. The clinically unaffected parents were heterozygous carriers of this mutation, indicating that this glycine substitution in one allele is “silent” when combined with a normal COL7A1 allele. Thus, this patient appeared to be affected with DEB inherited in an autosomal recessive pattern. The second case was a DEB patient with a heterozygous glycine-to-glutamic acid substitution (G2079E) in exon 75. The parents were clinically unaffected and neither had this mutation in their peripheral blood leukocyte DNA. Haplotype analyses suggested that this case arose as ade novooccurrence of autosomal dominant DEB. These cases illustrate the consequences of COL7A1 glycine substitution mutations underlying DEB in terms of the mode of inheritance and the phenotype, with profound implications for genetic counseling of individuals at risk for recurrence of DEB in subsequent offspring or future generations.
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大疱性表皮松解症的分子遗传学。
影响因子：
56.9
作者：
Ervin H. Epstein
通讯作者：
Ervin H. Epstein
VII 型胶原基因 (COL7A1) 的过早终止密码子突变是严重隐性营养不良性大疱性表皮松解症的基础。
DOI：
--
发表时间：
1995
期刊：
Proceedings of the Association of American Physicians.
影响因子：
--
作者：
Uitto,J;Hovnanian,A;Christiano,AM
通讯作者：
Christiano,AM
VII 型胶原三螺旋区域的甘氨酸取代导致一系列营养不良性大疱性表皮松解症表型和遗传模式。
影响因子：
9.8
作者：
Christiano,AM;McGrath,JA;Tan,KC;Uitto,J
通讯作者：
Uitto,J
胫骨前大疱性表皮松解症：与 COL7A1 的遗传连锁以及 VII 型胶原三螺旋结构域中甘氨酸到半胱氨酸取代的鉴定。
影响因子：
3.5
作者：
Christiano,AM;Lee,JY;Chen,WJ;LaForgia,S;Uitto,J
通讯作者：
Uitto,J
在患有显性营养不良性大疱性表皮松解症的家族中，VII 型胶原三螺旋结构域中的甘氨酸被精氨酸取代。
DOI：
10.1111/1523-1747.ep12296242
发表时间：
1997
期刊：
The Journal of investigative dermatology
影响因子：
--
作者：
Lee,JY;Pulkkinen,L;Liu,HS;Chen,YF;Uitto,J
通讯作者：
Uitto,J