The symptoms of CKCSID Dry eye curly coat syndrome
The CKCSID is a genetic disease that particularly affects the skin, nails and eyes in the cavalier king charles spaniel. The affected dogs have rough and curly coat and the eyes seems dry. The abdominal part of the belly becomes hyperpigmented and keratinized in adulthood. At the level of the teeth in the affected adult dogs, we can observed an intense formation of tartar associated with gingivitis which leads sometimes to the obligatory tearing of several teeth.
This genetic disease has been described for the first time in 2006.
Type of sample
- بکی لعاب
- Blood in EDTA tube
- Blood in dry tube
Available breeds for the test : CKCSID Dry eye curly coat syndrome
The following breeds are recognized :
- Autre Race
- Cavalier King Charles
Understanding results of the test : CKCSID Dry eye curly coat syndrome
Gene Mutation : FAM83H c.1016delC
Heredity : autosomal recessive (more information)
|Test result||CKCSID Dry eye curly coat syndrome status (FAM83H c.1016delC)||Health status|
|N/N||No copy of the CKCSID mutation||Animal is normal (clear)|
|N/CKCSID||1 copy of the CKCSID mutation||Animal is normal (clear)|
|CKCSID/CKCSID||2 copies of the CKCSID mutation||Animal is, will or could be affected|
Cross table of the test : CKCSID Dry eye curly coat syndrome
|Mother N/N||Mother N/CKCSID||Mother CKCSID/CKCSID|
|Father N/N||100% N/N||50% N/N|
|Father N/CKCSID||50% N/N|
|Father CKCSID/CKCSID||100% N/CKCSID||50% N/CKCSID|
Certificate example for the test : CKCSID Dry eye curly coat syndrome
Click on the example certificate below to open it.
Forman OP, Penderis J, Hartley C, Hayward LJ, Ricketts SL, et al. (2012) Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed. PLoS Genet 8(1): e1002462. doi:10.1371/journal.pgen.1002462
Barnett KC (2006) Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in the cavalier King Charles spaniel. J Small Anim Pract 47:524-528.