Could Bulldogs Help Researchers Learn More About Robinow Syndrome?

According to a story from Gizmodo, the genetic mutation which causes certain types of dog breeds, such as Boston terriers and bulldogs, to have spiral shaped, corkscrew tails appears to be very similar to the mutations that are present in the rare disorder Robinow syndrome. By studying the genetic characteristics of these dogs, scientists are hoping to further their understanding of Robinow syndrome as well.

About Robinow Syndrome

Robinow syndrome is an incredibly rare genetic disorder which is most characterized by dwarfism, distinctive head and facial features, and segmentation of the vertebrae. The autosomal recessive form of the disease has been linked to mutations affecting the ROR2 gene. The autosomal dominant form can be caused by mutations of the DVL1, DVL3, or WNT5A genes. This dominant form is often caused by a new mutation as opposed to being inherited. Symptoms of Robinow syndrome include small face with wide spaced eyes, dwarfism, small and shortened arms, legs, toes, and fingers, underdeveloped genitalia, various vertebral abnormalities, and deformed eyelids. Associated complications include hearing loss, esophageal reflux, difficulty breathing and eating, and developmental problems. There are no approved treatments for Robinow syndrome, so management is mostly based on dealing with symptoms. To learn more about Robinow syndrome, click here.

Bulldogs: Genetic Mutations

The development of highly distinctive and unnatural looking breeds of dogs like bulldogs are basically the result of many generations of inbreeding, and over time the features of bulldogs, such as the flattened, box-like head and jaw and the corkscrew tail, have continued to become even more exaggerated. Unfortunately, these features make bulldogs and other similar breeds more likely to have health problems; their unnatural head shape makes them susceptible to breathing issues and their prominent eyes are also more vulnerable to injury. 

The corkscrew tail is also the result of spinal deformations. A genetic analysis of 100 dogs, including ten with corkscrew tails, revealed that this unique tail was the result of a mutation affecting the DVL2 gene. The result of this mutation is quite similar to DVL1 and DVL3 mutations, which play a role in certain forms of Robinow syndrome. These patients are also susceptible to many of the health problems that corkscrew breeds also face.

Animal Model of Robinow Syndrome

Bulldogs and Boston terriers could be useful animal models for Robinow syndrome research. While more study will be necessary in order to learn more about how the DVL2 mutation impacts these breeds, researchers are fortunate in not having to attempt to create a different animal model themselves.

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