OMIA:001501-9615 : Dilute coat color with neurological defects in Canis lupus familiaris
In other species: horse
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 214450 (trait) , 160777 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2021
Cross-species summary: The phene is very similar to human Griscelli syndrome, type 1 (GS1).
Species-specific name: Dilute coat color with neurological defects
Molecular basis: Christen et al. (2021) "sequenced the genome of the affected dog and compared the data to 795 control genomes. MYO5A, coding for myosin VA, was investigated as the top functional candidate gene. This search revealed a private homozygous frameshift variant in MYO5A, XM_022412522.1:c.4973_4974insA, predicted to truncate 269 amino acids (13.8%) of the wild type myosin VA protein, XP_022268230.1:p.(Asn1658Lysfs*28). The genotypes of the index family showed the expected co-segregation with the phenotype and the mutant allele was absent from 142 additionally genotyped, unrelated Dachshund dogs."
Clinical features: Christen et al. (2021): A 1-month-old, female, smooth-haired miniature Dachshund with dilute color and neurological defects was investigated. ... The puppy had visible coat color dilution and was unable to hold its head on its own or to remain in a stable prone position for an extended period."
Pathology: Christen et al. (2021): "Histopathological examination revealed an accumulation of clumped melanin and deposition of accumulated keratin within the hair follicles, accompanied by dermal pigmentary incontinence."
Breed: Miniature dachshund.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MYO5A||myosin VA||Canis lupus familiaris||30||NC_051834.1 (18328524..18136193)||MYO5A||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|
|1372||Miniature dachshund||Coat colour dilution and neurological defects||MYO5A||insertion, small (<=20)||Naturally occurring variant||CanFam3.1||30||g.18004551_18004552insT||c.4973_4974insA||p.(N1658Kfs*28).||cDNA and protein positions based on XM_022412522.1 and XP_022268230.1, respectively||2021||34680875|
|2021||Christen, M., de le Roi, M., Jagannathan, V., Becker, K., Leeb, T. :|
|<i>MYO5A</i> Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1. Genes (Basel) 12:1479, 2021. Pubmed reference: 34680875 . DOI: 10.3390/genes12101479.|
- Created by Tosso Leeb on 15 Sep 2021
- Changed by Imke Tammen2 on 29 Oct 2021