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Polydactyly (Great Pyrenees Type)

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Test Overview:

Polydactyly (Great Pyrenees Type), also known a canine preaxial polydactyly (PPD). Generally, dogs have 5 digits for their front paws and 4 digits on the hind paws (due to the evolutionary adaptation). This disorder refers to the restoration of the first digit in the hindlimb (hind dewclaw) that was lost during the canine evolution. Polydactyly in the Great Pyrenees breed presents as either a single or double dewclaw, with five or six digits. Great Pyrenees with single hindlimb polydactyly (five digits) did not carry the ALX4 Mutation. However, all Great Pyrenees with the bilateral double hindlimb polydactyly (six digits) carry either one or two copies of the mutation ALX4, and has an Autosomal Dominant mode of inheritance. Note: this ALX4 mutation has only been observed in the Great Pyrenees breed and was not found in many other dog breeds.

Category:

Trait (Associated with Phenotype)

Gene:

ALX4

Variant Detected:

chr18:44922455-44922505 (canFam3): 51 bp deletion

Severity:

It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance:

Autosomal Dominant

Recommended Screening:

The polydactyly (Great Pyrenees type) trait test evaluates the ALX4 gene region for the presence of the bilateral double hindlimb polydactyly associated variant.

Research Citation(s):

Fondon JW 3rd, Garner HR. Molecular origins of rapid and continuous morphological evolution. Proc Natl Acad Sci U S A. 2004 Dec 28;101(52):18058-63. [PubMed: 15596718] Park K, Kang J, Subedi KP, Ha JH, Park C. Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1. Genetics. 2008 Aug;179(4):2163-72. [PubMed: 18689889]

Associated Breed(s):

Great Pyrenees,
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