Congenital Dyshormonogenic Hypothyroidism with Goiter

Gene: SLC5A5

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution (splicing erreur), SLC5A5 gene; c.1172-1 G>A, deletion exon10

Medical system: Endocrine

Breeds: Chihuahua, Japanese Chin, Maltese Terrier, Miniature Pinscher, Pekingese, Pomeranian, Shih Tzu

References:

OMIA link: [2174-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Soler Arias EA, Castillo VA, Garcia JD, Fyfe JC. (2018) Congenital dyshormonogenic hypothyroidism with goiter caused by a sodium/iodide symporter (SLC5A5) mutation in a family of Shih-Tzu dogs. Domest Anim Endocrinol 65:1-8. [pubmed/29777899]