In other species: taurine cattle , indicine cattle (zebu)

Categories: Skeleton phene (incl. short stature & teeth)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 262400 (trait) , 139250 (gene) , 612781 (trait) , 173100 (trait)

Mendelian trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2020

Species-specific name: isolated growth hormone deficiency

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."

Breeds: Brussels Griffon (Dog) (VBO_0200241), Chihuahua (Dog) (VBO_0200338), Petit Brabancon (Dog) (VBO_0201011), Russian Bolonka (Dog) (VBO_0201147).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: