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H170

Brachycephaly in dogs is amongst others due to a mutation in the bone morphogenetic protein 3 (BMP3) gene.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

Brachycephaly in dogs is amongst others due to a mutation in the bone morphogenetic protein 3 (BMP3) gene. This gene helps form the bones in a dog’s face and skull and having the mutation causes the face to be shorter, which gives dogs of specific breeds their brachycephalic (short, flat-faced) appearance. This can also cause health problems like breathing difficulties in Bulldogs, Pugs, French Bulldogs, Boxers, and other breeds with short faces. The BMP3 mutation is just one of the factors influencing the structure of the face in dogs. Therefore it is marked as a multifactorial trait.

Clinical features

Besides the shorter face, affected dogs can have breathing difficulties such as Brachycephalic Obstructive Airway Syndrome (BOAS). This can lead to snoring, excessive panting, gasping or noisy breathing, heat and exercise intolerance. In addition, the dogs can have dental issues (crowded teeth and dental infections) and eye problems (dry eyes and corneal ulcers). Most of the symptoms of Brachycephaly linked to the BMP3 gene mutation begin to show up when the dog is still quite young, often by 2 to 3 months old for breathing problems and facial features, with dental issues, eye problems and heat or exercise intolerance becoming more noticeable around 6 months to a year. Depending on the severity of the Brachycephalic Obstructive Airway Syndrome and the size of the dog this may become apparent at an earlier or bit older age.

Additional information

References

Pubmed ID: 22876193

Omia ID: 1551

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2. Collect DNA sample

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3. Results

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