Bart syndrome
| Bart syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 132000 |
Bart syndrome is a genetic disorder characterized by the association of congenital localized absence of skin, epidermolysis bullosa, lesions of the mouth mucosa, and dystrophic nails.[1][2]
Genetics
The disease is inherited by autosomal dominant transmission with complete penetrance but variable expression. This means that children of an affected parent that carries the gene have a 50% chance of developing the disorder, although the extent to which they are affected is variable.
Bart syndrome is caused by ultrastructural abnormalities in the anchoring fibrils. Genetic linkage of the inheritance of the disease points to the region of chromosome 3 near the collagen, type VII, alpha 1 gene (COL7A1).[3]
See also
References
- ↑ Butler DF, Berger TG, James WD, Smith TL, Stanely JR, Rodman OG (1986). "Bart's syndrome: microscopic, ultrastructural, and immunofluorescent mapping features". American Family Physician 3 (2): 113–118. PMID 3513144.
- ↑ James W, Berger T, Elston D (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 558. ISBN 0-7216-2921-0.
- ↑ Christiano AM, Bart BJ, Epstein EH Jr, Uitto J (1996). "Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene". American Family Physician 106 (6): 1340–2. PMID 8752681.
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
This article is issued from Wikipedia - version of the Sunday, August 02, 2015. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.