A male German shepherd pup was described with symmetrical areas of hairlessness as well as missing and misshapen teeth. There was no family history of a similar phenotype. The symptoms resembled those in ectodermal dysplasia in the Tabby mouse and anhidrotic/hypohidrotic ectodermal dysplasia (HED) in man, which are both X-linked recessive disorders. The causative mutation in the dog was identified in the EDA gene which codes for ectodysplasin involved in the formation of hair follicles and tooth buds during fetal development. The mutation leads to a truncated protein and thus prevents correct function.
Test specific information
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.
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
This disease is present in the entire body, but causes main effects in the internal organs such as stomach, intestinal tract, liver and / or kidneys. In a number of cases, the disease affects one major internal organ.
This DNA test is available for the following breeds: German Shepherd. Additional information is available in the Frequently Asked Questions (FAQ).
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Tissue, Semen, Swab. Please contact Dr. Van Haeringen Laboratorium if you wish to submit other material as listed.
The following results are possible for a female: the mode of inheritance is based on recessive or dominant patterns.
The following results are possible for a male:
- A male animal has the sex chromosome Y and a healthy allel. When used in breeding, this animal will not become affected by the disease, nor will the disease be inherited to the next generation.
- A male animal has the sex chromosome Y and a disease allel. When used in breeding, this animal will become affected by the disease. Also, male offspring will receive the Y-chromosome, whereas female offspring will receive the disease allele.
The disease is inherited in an X-chromosomal manner. This means, that female individuals can be free (homozygous normal), affected (homozygous affected) or carrier (heterozygous).
Male individuals carry only one copy of the X-chromosome, which results in the effect that male carriers will also be affected.
Female carriers may spread the disease in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a disease.
Severity of Disease