Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa.
نویسندگان
چکیده
Peter B Cserhalmi-Friedman, Maria C Garzon, Edwin Guzman, Amalia Martinez-Mir, Wendy K Chung, Kwame Anyane-Yeboa and Angela M Christiano Department of Dermatology, New York, New York, U.S.A. Department of Genetics and Development, New York, New York, U.S.A. Department of Pediatrics, Division of Clinical Genetics, College of Physicians and Surgeons, Columbia University, New York, New York, U.S.A. Correspondence: Dr Angela M. Christiano, Department of Dermatology, College of Physicians & Surgeons, Columbia University, 630 West 168th Street VC-1526, New York, NY 10032 Email:[email protected]
منابع مشابه
Natural gene therapy in dystrophic epidermolysis bullosa.
BACKGROUND Dystrophic epidermolysis bullosa is a genetic blistering disorder caused by mutations in the type VII collagen gene, COL7A1. In revertant mosaicism, germline mutations are corrected by somatic events resulting in a mosaic disease distribution. This "natural gene therapy" phenomenon long has been recognized in other forms of epidermolysis bullosa but only recently in dystrophic epider...
متن کاملLinkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus.
Linkage of the anonymous marker D3S2 at 3p21 has been shown in three British families with dominant dystrophic epidermolysis bullosa with a combined lod score of 6.75 at theta = 0. This locus is close to the collagen type VII locus implying that abnormalities of this gene cause dominant dystrophic epidermolysis bullosa.
متن کاملPretibial Epidermolysis Bullosa: Report of two cases
Pretibial epidermolysis bullosa is a rare variant of hereditary epidermolysis bullosa characterized by the delayed onset of lesions and their localization. We present two cases, a 35-year-old woman and a 21-year-old man. They clinically had pruritus, nodular prurigo-like or lichenified lesions, violaceous scarring, milia, nail dystrophy and in one case albopapuloid lesions on the trunk. Physica...
متن کاملRat Model for Dominant Dystrophic Epidermolysis Bullosa: Glycine Substitution Reduces Collagen VII Stability and Shows Gene-Dosage Effect
Dystrophic epidermolysis bullosa, a severely disabling hereditary skin fragility disorder, is caused by mutations in the gene coding for collagen VII, a specialized adhesion component of the dermal-epidermal junction zone. Both recessive and dominant forms are known; the latter account for about 40% of cases. Patients with dominant dystrophic epidermolysis bullosa exhibit a spectrum of symptoms...
متن کاملAn Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred
Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by intense pruritus, nodular or lichenoid lesions, and violaceous linear scarring, most prominently on the extensor extremities. Remarkably, identical mutations in COL7A1, which encodes an anchoring fibril protein present at the dermal-epidermal junction, can cause both DEB and EBP ...
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ورودعنوان ژورنال:
- The Journal of investigative dermatology
دوره 117 5 شماره
صفحات -
تاریخ انتشار 2001