Congenital Hypothyroidism with Goiter

Gene involved
SLC5A5

Mutation tested
g.29777899G>A

Transmission mode : Autosomal recessive

Publication : Soler et al. (2018). Congenital dyshormonogenic hypothyroidism with goiter caused by a sodium/iodide symporter (SLC5A5) mutation in a family of Shih-Tzu dogs.

Gene involved
TPO

Mutation tested
c.367C>T

Transmission mode : Autosomal recessive

Publication : Fyfe et al. (2003). Congenital hypothyroidism with goiter in toy fox terriers.

Gene involved
TPO

Mutation tested
c.2242+2T>C

Transmission mode : Autosomal recessive

Publication : Major et al. (2015). Molecular genetic characterization of thyroid dyshormonogenesis in a French Bulldog.

Concerned breeds :