OMIA 000328-9685 : Ehlers-Danlos syndrome, type VII (Dermatosparaxis) in Felis catus

In other species: cattle , sheep

Possibly relevant human trait(s) and/or gene(s) (MIM number): 225410

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: Although evidence is incomplete, it appears that this disorder in cats is due to a mutation in the gene for the enzyme procollagen I amino proteinase, which is the enzyme responsible for removing "surplus" amino acids from the N-terminal end of procollagen-I molecules.

Breed: Himalayan.

References


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.
1993 Lapiere, C.M., Nusgens, B.V. :
Ehlers-Danlos syndrome type VII-C, or human dermatosparaxis: the offspring of a union between basic and clinical research Archives of Dermatology 129:1316-1319, 1993. Pubmed reference: 8215498.
1980 Collier, L.L., Leathers, C.W., Counts, D.F. :
A clinical description of dermatosparaxis in a Himalayan cat Feline Practice 10:25-36, 1980.
Counts, D.F., Byers, P.H., Holbrook, K.A., Hegreberg, G.A. :
Dermatosparaxis in a Himalayan cat. I. Biochemical studies of dermal collagen Journal of Investigative Dermatology 74:96-99, 1980. Pubmed reference: 7351504.
Holbrook, K.A., Byers, P.H., Counts, D.F., Hegreberg, G.A. :
Dermatosparaxis in a Himalayan cat. II. Ultrastructural studies of dermal collagen Journal of Investigative Dermatology 74:100-104, 1980. Pubmed reference: 7351497.

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  • Created by Frank Nicholas on 16 Jul 2005