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H327 Dental Hypomineralization (Raine Syndrome)

Background

A developmental disorder of the teeth which is characterized by light brown discoloured and smooth enamel, extensive wear and inflammation is known in Border collies. The symptoms are caused by severe hypomineralization of the teeth of the affected dogs. A Next Generation Sequencing approach resulted in the identification of the causal mutation leading to the disease. The mutation is located in the FAM20C gene which plays an important role in cell differentiation and mineralization during tooth and bone development. The mode of inheritance is recessive. Genotyping of 20 dog breeds did not result in carrier identification, suggesting that the mutation is specific for Border Collies.

Test specific information

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Age

Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.

Throughput

Normally the result can be expected within 10 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.

Location of disease or trait

The disease is present in the teeth.

Breed dependence

This DNA test is available for the following breeds: Border Collie. Additional information is available in the Frequently Asked Questions (FAQ).

Sample type

For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Swab, Tissue, Semen. Please contact Dr. Van Haeringen Laboratorium if you wish to submit other material as listed.

Result

An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.

An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.

An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.

Inheritance

This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous).

Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.

Severity of Disease

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Dog

Dental Hypomineralization (Raine Syndrome)

Code H327
€ 47,80 (incl. 21% VAT)
€ 39,50 (excl. VAT)
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