OMIA 001473-9615 : Dwarfism, growth-hormone deficiency in Canis lupus familiaris

In other species: cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 262400

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

Molecular basis: Iio et al. (2020) identified a likely causal variant, namely "a homozygous in-frame 6-bp deletion (c.573_578del) that resulted in 1 amino acid substitution (K165N) and 2 amino acid deletions (K166del and D167del) in exon 5 of GH1"

Clinical features: Iio et al. (2020) :"A 6-mo-old female Chihuahua was presented with recurrent episodes of hypoglycemia and collapse. Physical examination revealed proportionate dwarfism, retained puppy hair coat, retained deciduous teeth, and open fontanelles. Routine blood tests revealed hypoglycemia, thrombocytosis, hypoproteinemia, and elevated alkaline phosphatase activity. The urinalysis, radiographs, and ultrasonographs were unremarkable. Endocrine testing revealed that insulin-like growth factor 1 was below the detection limit; concentrations of total thyroxine, baseline cortisol, and cortisol stimulated by tetracosactide acetate were within their reference intervals. The pituitary gland showed no organic abnormalities on magnetic resonance imaging. For definitive diagnosis, we conducted the stimulation test for growth hormone (GH) release and diagnosed isolated GH deficiency."

Breed: Chihuahua.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GH1 growth hormone Canis lupus familiaris 9 NC_051813.1 (13499392..13493565) GH1 Homologene, Ensembl, NCBI gene

Variants

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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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Chihuahua Dwarfism, growth-hormone deficiency GH1 deletion, small (<=20) CanFam3.1 9 c.573_578del 2020 32646299

Reference


2020 Iio, A., Maeda, S., Yonezawa, T., Momoi, Y., Motegi, T. :
Isolated growth hormone deficiency in a Chihuahua with a <i>GH1</i> mutation. J Vet Diagn Invest :1040638720938671, 2020. Pubmed reference: 32646299. DOI: 10.1177/1040638720938671.

Edit History


  • Created by Frank Nicholas on 24 Jul 2020
  • Changed by Frank Nicholas on 24 Jul 2020