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Dog DNA testing illustration

Dry Eye Curly Coat Syndrome (CCS, DE-CC)

Code: H913

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

Search by our number or the laboratory number. An unmatched number is saved as a previous / external reference. No new physical sample is needed.
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Short description

Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis (CKCSID), colloquially known as 'Dry Eye Curly Coat Syndrome', is a disorder found in the Cavalier King Charles Spaniel.

General information

Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis (CKCSID), colloquially known as ‘Dry Eye Curly Coat Syndrome’, is a disorder found in the Cavalier King Charles Spaniel. There are two elements to CKCSID: a severe form of dry eye (Keratoconjunctivitis Sicca, KCS), and a skin disorder. The disease is caused by a recessive mutation to the gene FAM83H.

Specifications

Breeds

Cavalier King Charles Spaniel
Gene

FAM83H
Chromosome

13
Mutation

c.977del
Organ

Integumentary System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

CKCSID

Clinical features

Affected puppies are born with an abnormal rough or curly coat and an inability to properly produce tears, which leads to a severe form of dry eyes. Symptoms include red eyes, itchy and/or scaly skin, cracked and sore paw pads, deformed nails and poor dental health.

References

Pubmed ID: 22253609

Year published: 2012

Omia ID: 1683

Omia variant ID:

Turnaround information

  • 15 working days