OMIA:001473-9615 : Dwarfism, growth-hormone deficiency in Canis lupus familiaris |
In other species: cattle , zebu
Categories: Skeleton phene (incl. short stature & teeth)
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 262400 (trait) , 139250 (gene) , 612781 (trait) , 173100 (trait)
Links to MONDO diseases: No links.
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.
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1232 | Chihuahua | Dwarfism, growth-hormone deficiency | GH1 | deletion, small (<=20) | Naturally occurring variant | CanFam3.1 | 9 | g.11832438_11832443del | c.573_578del | p.(K191_D193delinsN) | NM_001003168.1; NP_001003168.1 | 2020 | 32646299 | Genomic coordinates in CanFam3.1 provided by Robert Kuhn |
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
- Changed by Frank Nicholas on 24 Jul 2020
- Created by Frank Nicholas on 24 Jul 2020