OMIA:000361-9783 : Factor VII deficiency in Elephas maximus
In other species: dog
Categories: Haematopoietic system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 227500 (trait) , 613878 (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: 2017
Molecular basis: By sequencing the most likely candidate gene (based on a prolonged prothrombin time in the presence of a normal partial thromboplastin time) in a single Asian elephant, Lynch et al. (2017) identified the likely causal mutation as "a single homozygous point mutation (c.202A.G) in the F7 gene of the FVII deficient elephant that was not present in unrelated elephants. This mutation causes an amino acid substitution (p.Arg68Gly) that is predicted to be deleterious."
Clinical features: As reported by Lynch et al. (2017), "Consistent with FVII deficiency investigations in other species, the condition did not cause a serious bleeding tendency in this individual elephant".
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|F7||Elephas maximus||-||no genomic information (-..-)||F7||Ensembl|
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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|
|148||Factor VII deficiency||F7||missense||Naturally occurring variant||c.202A>G||p.(R68G)||2017||28118558|
|2017||Lynch, M., McGrath, K., Raj, K., McLaren, P., Payne, K., McCoy, R., Giger, U., Lynch, M., McGrath, K., Raj, K., McLaren, P., Payne, K., McCoy, R., Giger, U. :|
|Hereditary factor VII deficiency in the Asian elephant (Elephas maximus) caused by a F7 missense mutation. J Wildl Dis 53:248-257, 2017. Pubmed reference: 28118558 . DOI: 10.7589/2016-05-113.|
- Created by Frank Nicholas on 26 Jan 2017
- Changed by Frank Nicholas on 26 Jan 2017