Dry Eye Curly Coat Syndrome (CKCSID)
Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis
Dry Eye Curly Coat Syndrome (CKCSID) is a genetic disorder that affects the Cavalier King Charles Spaniel breed. Symptoms of the disease can be seen at birth and include abnormal hair, eye, and nail development. The dog’s coat will appear curly and rough, and the dog will exhibit a severe reduction in the number of tears they produce. The dog’s skin and footpads can appear thickened, also known as hyperkeratinization and there is an increased risk for dental disease.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop CKCSID nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop CKCSID but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with this disease which results in abnormal hair, eye and nail development from birth.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
FAM83H
Chromosome
Ch. 13
Mutation
C.977delC
Publication:
Forman OP, Penderis J, Hartley C, Hayward LJ, Ricketts SL, Mellersh CS. Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed. PLoS Genet. 2012 Jan;8(1). [PubMed: 22253609]
