OMIA:002174-9615 : Hypothyroidism, congenital dyshormonogenic, with goiter, SLC5A5-related in Canis lupus familiaris
Categories: Endocrine / exocrine gland phene (incl mammary gland)
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 274400 (trait) , 601843 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2018
Species-specific symbol: CDHG
Inheritance: Soler Arias et al. (2018): "Congenital dyshormonogenic hypothyroidism with goiter in this family [of Shih-Tzu] is an autosomal recessive trait."
Molecular basis: Soler Arias et al. (2018): "A homozygous mutation of the intron 9 splice acceptor site of SLC5A5 gene, encoding the sodium/iodine symporter (NIS), was found in the DNA of one of the affected dogs [the only one from whom a DNA sample could be obtained; the other one having died]. The mutation was a single base transition of guanine > adenine (G > A) at position 45,024,672 of dog chromosome 20 (CFA20). Five of eight healthy dogs, including both parents of one of the dogs exhibiting CDHG, were heterozygous A/G, and the other 3 were homozygous for the wild-type allele G/G. No sequence variant was found in thyroid peroxidase of the affected dog [for which a DNA sample was available]."
Clinical features: Soler Arias et al. (2018): "The ITD was recognized by the absence of uptake of technetium-99m in the salivary glands (sg) and goiter observed by scintigraphy. In the same scan, radiopharmaceutical uptake was found in the anterior mediastinum of both [affected] dogs and in the right axillary lymph node in the oldest dog. A follicular thyroid carcinoma was diagnosed by histopathology after thyroidectomy of the older dog. An adenomatous goiter with ectopic thyroid tissue, and degenerative changes in myocardium were the findings after necropsy in the youngest dog."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC5A5||solute carrier family 5 (sodium/iodide cotransporter), member 5||Canis lupus familiaris||20||NC_051824.1 (45514972..45502644)||SLC5A5||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1037||Shih-Tzu||Congenital dyshormonogenic hypothyroidism with goiter||SLC5A5||splicing||Naturally occurring variant||CanFam3.1||20||g.45024672C>T||c.1172-1G>A||XM_541946.4; published as g.45024672G>A, predicted to be a splice site mutation leading to loss of exon 10 and a frameshift||2018||29777899|
|2018||Soler Arias, E.A., Castillo, V.A., Garcia, J.D., Fyfe, J.C. :|
|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, 2018. Pubmed reference: 29777899 . DOI: 10.1016/j.domaniend.2018.04.005.|
- Created by Frank Nicholas on 02 Mar 2019
- Changed by Frank Nicholas on 02 Mar 2019
- Changed by Imke Tammen2 on 22 May 2022