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Congenital hypothyroidism with goiter in Tenterfield terriers
1Laboratory of Comparative Medical Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA.
Journal of Veterinary Internal Medicine
|November 2, 2012
Summary
A genetic mutation in the thyroid peroxidase gene causes congenital hypothyroidism with goiter in Tenterfield Terriers. This discovery enables a carrier test for breeding dogs.
Area of Science:
- Canine genetics
- Endocrinology
- Veterinary medicine
Background:
- Congenital hypothyroidism with goiter (CHG) identified in Tenterfield Terriers.
- Hypothesized genetic etiology with autosomal recessive inheritance.
Purpose of the Study:
- Describe CHG phenotype, thyroid histopathology, biochemistry, inheritance, and causal mutation in Tenterfield Terriers.
- Identify the genetic basis of CHG in this breed.
Main Methods:
- Analyzed thyroid tissue from affected and control dogs.
- Performed biochemical and genetic segregation analysis.
- Sequenced thyroid peroxidase (TPO) cDNA and genomic DNA to identify mutations.
- Assessed TPO activity and protein levels.
Main Results:
- Affected dogs showed thyroid lesions consistent with dyshormonogenesis.
- Absent TPO activity but present TPO protein was observed.
- A homozygous TPO missense mutation (R593W) in exon 9 was identified in affected dogs.
- This mutation was heterozygous in carriers and present in 31% of normal Tenterfield Terriers.
Conclusions:
- Identified the specific TPO gene mutation responsible for CHG in Tenterfield Terriers.
- Developed a carrier test for genetic screening in breeding populations.
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