Cleft lip/palate and syndactyly / CLPS (ADAMTS20-related) - Nova Scotia Duck Tolling Retriever

What does this test analyse?

This DNA test analyses the ADAMTS20 c.1360_1361delAA variant in the Nova Scotia Duck Tolling Retriever. The condition is known as cleft lip/palate and syndactyly, CLPS, CL/P, orofacial cleft, cleft lip, cleft palate and syndactyly.

What does CLPS mean?

CLPS is a congenital developmental disorder in which puppies can be born with a cleft in the upper lip, an open palate or both. When the palate is open, the mouth and nasal cavity communicate, making suckling difficult and allowing milk or saliva to enter the airways more easily. Affected puppies can therefore have problems with nursing, swallowing, growth and respiratory infections.

In this ADAMTS20-related form, the middle toes can also be partially or fully fused. Severity can vary between puppies: some mainly show cleft palate, while others also have a visible cleft lip and syndactyly.

Inheritance and result

This form of CLPS is inherited as an autosomal recessive trait. A dog with N/N does not carry the tested variant. A dog with N/CLPS is a carrier and can pass the variant on. A dog with CLPS/CLPS is genetically affected and develops the tested form of CLPS.

Practical value of this test

For breeders, this test is especially valuable because carriers look normal. Without DNA testing, the variant can remain hidden in a line and only become visible when two carriers are bred together.

• Helps clearly distinguish clear, carrier and genetically affected dogs.
• Makes it possible to avoid carrier-to-carrier matings and prevent affected puppies.
• Supports targeted breeding selection without automatically losing valuable carrier dogs from a breeding programme.
• Adds clarity in family screening when CLPS, cleft palate or syndactyly has occurred in a line.
• Supports transparent communication with puppy buyers because the hereditary status of breeding dogs is documented.

Result in brief

• N/N: the tested CLPS variant was not detected.
• N/CLPS: the dog is a carrier and can pass on the variant.
• CLPS/CLPS: this genotype causes the tested ADAMTS20-related form of CLPS.