Miniature Bull Terrier

PLL-A - Primary Lens Luxation

Lens displacement in the eye

Description: Partial or complete breakdown of the zonular ligaments suspending the lens

Symptoms : Reddened eye, pain, corneal oedema, glaucoma which can damage the optic nerve causing blindness

Age of onset : Between 3 and 8 years old

Frequency : 40%

Gene involved : ADAMTS17

Tested mutation : c.1473+1G>A

Transmission : Autosomal Recessive

Patent : _

Notes : Primary lens luxation affects both eyes although few weeks or few months can separate luxation from each eye. Some clinical cases are not associate with the mutation.

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Miniature Bull Terrier

LAD - Lethal Acrodermatitis

Skin lesions and poor growth

Description: Dermatosis characterized by poor growth, immune deficiency, and skin lesions, especially at the paws and in the face

Symptoms : Skin lesions (erythema, tightly adherent scale with crust) at the feet, elbows, hocks and muzzle, failure to thrive, immunodeficiency, skin infections. Later on, hyperkeratosis of the footpads and degeneration of the nails. Affected puppies typically die before they reach an age of two years, either due to infections or euthanasia when their foot lesions become very severe and painful.

Age of onset : From birth

Frequency : 27% carriers in French population

Gene involved : -

Tested mutation : -

Transmission : Autosomal Recessive

Patent : -

Notes : -

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Miniature Bull Terrier

Spinning

Tail chasing

Speciality Neurology

Description : Disease classified as an obsessive compulsive disorder. Current hypothesis: syndrome suggested to resemble partial seizures (without loss of consciousness) during which an abnormal electrical activity occurs in the temporal lobe of the brain (brain area involved in behaviour).

Symptoms : Affected dogs spin rapidly in tight circles, more or less frequently, with or without apparent interest in the tail. Some cases may be associated with aggressiveness which is triggered without reason and/or growling against a person or an object, irrational fears or disorders of consciousness with an apparent disassociation of the environment (trance-like behaviour, hallucinatory fly-catching compulsions...).

Age of onset : Puppies can be affected as early as few months, but the hormonal changes at puberty appear to be involved in the onset or worsening of this disorder.

Examination : Neurological check-up

Progress : Undergoing sampling. The first genetic results would show a genetically complex disorder.

Prélèvements pour participer à la recherche : Blood sample in EDTA tube (2-4 mL)

Documents to be attached to samples : Clinical certificate, Sampling certificate, Copy of pedigree

Collaboration : Dr C. Escriou (VetAgro Sup, France), veterinary neurologist and team of Dr H. Lohi (University of Helsinki, Finland)

Contact : spinning@vetagro-sup.fr mageane@antagene.com

Comment : Your involvement in research is essential to our progress.

Miniature Bull Terrier

Deafness

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Speciality Neurology

Description : Unilateral or bilateral deafness. Deafness is easily diagnosed only when it is bilateral. In case of unilateral deafness, the anomaly is sometimes detected only by the BAER test.

Symptoms : -

Age of onset : From birth

Examination : Brainstem auditory-evoked response (BAER)

Progress : Undergoing sampling

Prélèvements pour participer à la recherche : Blood sample in EDTA tube (2-4 mL)

Documents to be attached to samples : Clinical certificate, Sampling certificate, Copy of pedigree

Collaboration : -

Contact : mageane@antagene.com

Comment : -