Dog Bardet-Biedl Syndrome 4 (BBS4)

Discover the benefits of a DNA test for Bardet-Biedl Syndrome 4 in dogs, a crucial tool for responsible pet owners. This genetic condition can lead to serious health issues, including obesity and vision problems. By identifying whether your dog carries the BBS4 mutation, you can take proactive steps to manage their health. Early detection through DNA testing allows for tailored care and informed breeding decisions. Ensure your furry friend lives a happy, healthy life by understanding their genetic risks. Invest in a reliable DNA test today to safeguard your dog's well-being. Learn more about Bardet-Biedl Syndrome 4 testing and its importance in canine health.

Abbreviation : BBS4

Analysed mutation : BBS4 c.58A>T

Inheritance : Autosomal Recessive

Acronym

BBS4

Observed frequency

Rare

Clinical severity

Severe

Clinical classification

Developmental Disorders

Analysed mutation

BBS4 c.58A>T
p.(K20*)

Mode of inheritance

Autosomal Recessive

Test summary:

Bardet-Biedl Syndrome 4 (BBS4) in dogs is a genetic condition that can lead to a range of health issues, including obesity, vision problems, and kidney dysfunction. A DNA test for BBS4 helps identify carriers and affected individuals, allowing for informed breeding decisions. Early detection through genetic testing can improve management strategies and enhance the quality of life for affected dogs. Responsible breeders can use this information to reduce the prevalence of the syndrome in future generations. Overall, DNA testing plays a crucial role in canine health and well-being.

Available from the pack : Basic

This DNA test is included starting from our pack Basic — and is also part of the packs Basic, Standard, Advanced, Complete.

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Choose the pack that best fits your breeding or health strategy of your animals.

Understanding Bardet-Biedl Syndrome 4 in Dogs

Bardet-Biedl Syndrome 4 (BBS4) is a genetic disorder that affects various systems in the body of affected dogs. It is part of a group of conditions known as Bardet-Biedl Syndromes, which are characterized by a range of symptoms that can include obesity, retinal degeneration, polydactyly, and kidney abnormalities. This syndrome is caused by mutations in specific genes that play a critical role in cellular function and development.

Genetic Basis of BBS4

BBS4 is linked to mutations in the BBS4 gene, which is responsible for encoding a protein involved in the functioning of cilia—tiny hair-like structures that project from the surface of cells. Cilia play a crucial role in various cellular processes, including signaling pathways that regulate growth and development. When mutations occur in the BBS4 gene, it can lead to improper functioning of these cilia, resulting in the clinical manifestations associated with the syndrome.

Clinical Signs and Symptoms

Dogs affected by Bardet-Biedl Syndrome 4 can exhibit a range of clinical signs. One of the most common symptoms is obesity, which may develop early in life and can be challenging to manage. Additionally, affected dogs often experience progressive retinal degeneration, leading to vision impairment or blindness. Other potential symptoms include polydactyly, where dogs may have extra toes, and various kidney abnormalities that can affect renal function.

Diagnosis and DNA Testing

Diagnosing Bardet-Biedl Syndrome 4 typically involves a combination of clinical evaluation and genetic testing. DNA testing can identify mutations in the BBS4 gene, confirming the diagnosis. This genetic test is a valuable tool for breeders and pet owners, as it can help determine whether a dog carries the genetic mutation associated with the syndrome, allowing for informed breeding decisions and management of affected animals.

Management and Treatment

Currently, there is no cure for Bardet-Biedl Syndrome 4, and management focuses on alleviating symptoms and improving the quality of life for affected dogs. Weight management through a balanced diet and regular exercise is crucial to combat obesity. Regular veterinary check-ups are essential for monitoring kidney function and addressing any eye-related issues that may arise due to retinal degeneration. Supportive care and early intervention can significantly enhance the well-being of dogs diagnosed with this condition.

Conclusion

Bardet-Biedl Syndrome 4 is a complex genetic disorder that poses various health challenges for affected dogs. Understanding the genetic basis, clinical signs, and management strategies is essential for owners and breeders to ensure the best possible care for these animals. Genetic testing plays a vital role in the early diagnosis and responsible breeding practices, ultimately contributing to the health and longevity of dogs at risk for this syndrome.

Breed recognized for the test : Bardet-Biedl Syndrome 4 (BBS4)

Puli

Interpretation of genotypes Genotype Status Learn more about the interpretation of genotypes FAQ: understanding the interpretation of result What does “Clear” mean? The animal does not carry the mutation. It will not develop the disease and will not pass it on. Is a “Carrier” serious? No. The animal is generally healthy but can transmit the mutation to its offspring. What if an animal is “Affected”? It carries two mutated copies. Clinical signs are expected depending on the disease. It should not be bred. Why are there differences between male / female? Some diseases are sex-linked, so their expression varies depending on the animal’s sex. The animal has two normal copies of the gene. No risk of developing or transmitting the disease. Heterozygous carrier: one mutated copy. The animal is usually not clinically affected but can pass the mutation to offspring. Male carrier or affected depending on the inheritance mode. Males have only one X or Y chromosome. Heterozygous female carrier: one mutated copy. She can pass the mutation on and may sometimes show mild clinical signs depending on the condition. Two mutated copies of the gene. The animal is at risk of developing the associated condition.

🧬 Interpretation of genotypes BBS4

Genotype

Status

🟡 N/N

Non-carrier - No Risk

🟡 N/BBS4

Carrier - No Risk

❌ BBS4/BBS4

Affected - At Risk

FAQ: understanding the interpretation

What does “Clear” mean?

The animal does not carry the mutation. It will not develop the disease and will not pass it on.

Is a “Carrier” serious?

No. The animal is generally healthy but can transmit the mutation to its offspring.

What if an animal is “Affected”?

It carries two mutated copies. Clinical signs are expected depending on the disease. It should not be bred.

Why are there differences between male / female?

Some diseases are sex-linked, so their expression varies depending on the animal’s sex.

Genotype Forecast for Offspring Mother Father Non-carrier Carrier Affected Favorable cross: majority Carrier risk is predominant. Majority affected Filter by mother's genotype Filter by father's genotype All Predict Offspring The animal has two normal copies of the gene. No risk of developing or transmitting the disease. Heterozygous carrier: one mutated copy. The animal is usually not clinically affected but can pass the mutation to offspring. Male carrier or affected depending on the inheritance mode. Males have only one X or Y chromosome. Heterozygous female carrier: one mutated copy. She can pass the mutation on and may sometimes show mild clinical signs depending on the condition. Two mutated copies of the gene. The animal is at risk of developing the associated condition.

Predict Offspring

Filter by mother's genotype Filter by father's genotype

N/N (Non-carrier)

N/BBS4 (Carrier)

BBS4/BBS4 (Affected)

DNA Test FAQ

What does this DNA test detect?

This DNA test detects the mutation associated with Bardet-Biedl Syndrome 4 in order to identify clear, carrier, or at-risk animals.

Why test a breeding animal?

DNA testing helps breeders plan safer matings and reduce the risk of transmitting the mutation to offspring.

What is the inheritance mode of this test?

The inheritance mode reported for this test is Autosomal Recessive.

Which mutation is analysed in this test?

This test analyses the mutation BBS4 c.58A>T.

Is a carrier animal necessarily affected?

Not necessarily. Interpretation depends on the inheritance pattern and the resulting genotype.

References

Chew Tracy, Haase Bianca, Bathgate Roslyn, Willet Cali E, Kaukonen Maria K, Mascord Lisa J, Lohi Hannes T, Wade Claire M. A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. G3 (Bethesda). 2017 Jul 5;7(7):2327-2335. doi: 10.1534/g3.117.043109.

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