OMIA 000327-9940 : Ehlers-Danlos syndrome in Ovis aries
In other species: dog , American mink , rabbit , domestic cat , horse Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 120150 , 130000 , 130010 , 130020 , 130050 , 130060 , 130070 , 130080 , 130090 , 147900 , 225310 , 225320 , 225400 , 225410 , 229200 , 305200 Mendelian trait/disorder: yes Considered a defect: yes Key variant known: no Cross-species summary: Also known as cutaneous asthenia (CA) or hyperelastosis cutis (HC). Some animals are born with easily extendible and very fragile skin. Severe lacerations result from the slightest scratch. The basic cause of these severe clinical signs is the presence of abnormal collagen in the skin. There are several genes encoding peptides that form procollagen molecules. There are also several genes encoding enzymes that remove excess amino acids from each end of the procollagen molecules, creating mature collagen. Mutations in any of these genes can give rise to Ehlers-Danlos syndrome. In general, mutations in collagen structural genes result in dominant forms of the disorder, because heterozygotes produce 50 per cent abnormal collagen molecules. In contrast, mutations in the genes for the enzymes that "process" procollagen generally result in recessive forms of the disorder, because the 50 per cent of normal enzyme activity that occurs in heterozygotes is sufficient to "process" all procollagen molecules. In humans, a detailed classification of the different types of Ehlers-Danlos syndrome has been made, corresponding to mutations in the different genes involved. In animals, most occurrences of the disorder have to be lumped together because the detailed studies necessary for classification have not yet been conducted.
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2014||Halper, J. :|
|Connective tissue disorders in domestic animals. Adv Exp Med Biol 802:231-40, 2014. Pubmed reference: 24443030. DOI: 10.1007/978-94-007-7893-1_14.|
|1972||Helle, O., Nes, N.N. :|
|A hereditary skin defect in sheep. Acta Vet Scand 13:443-5, 1972. Pubmed reference: 4673742.|
- Created by Frank Nicholas on 06 Sep 2005