Affected gene: VPS13B
 Mode of inheritance: Autosomal recessive
 Mutation: CanFam3.1 chr13 g.1412654_1412657delGTTT
 OMIA reference: 001428-9615


Breed(s) affected:
Border Collies


Clinical signs:
Affected puppies suffer from chronic infections due to a compromised immune system. They are often smaller than their littermates and exhibit developmental delays. Additionally, a narrow, elongated skull and slender extremities have been observed in some affected dogs. Clinical signs can appear as early as 6 weeks of age, although some individuals may only show mild signs that are not noticed until 2 years of age or older.


Reference:
Shearman, J.R., & Wilton, A.N. (2011).