OMIA:002616-9615 : Neuropathy, hereditary sensory and autonomic, SCN9A-related in Canis lupus familiaris (dog) |
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 243000 (trait) , 603415 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2023
Cross-species summary: also called congenital insensitivity or indifference to pain (CIP)
Species-specific name: Congenital insensitivity to pain
Species-specific symbol: CIP
Molecular basis: Gutierrez-Quintana et al. (2023) studied two affected littermates. Whole genome sequencing of one affected dog and comparing the data to 926 control genomes from genetically diverse dogs identified eight private homozygous protein changing variants. One was located in SCN9A, a functional candidate gene for congenital pain insensitivty. It was a missense variant, XM_038584713.1:c.2761C>T or XP_038440641.1:(p.Arg921Cys) affecting a highly conserved residue within the second transmembrane domain of the alpha subunit of the NaV1.7 sodium channel. Both affected dogs were homozygous for the mutant allele, which was not detected in 926 dogs of different breeds.
Clinical features: Gutierrez-Quintana et al. (2023): "Physical and neurological examinations showed the absence of superficial and deep pain perception in the entire body." The authors studied two affected littermates. One had to be euthanized at 2 months of age due to an infected and dislocated tibial and fibular fracture. The other affected littermate had to be euthanized at 10 months of age after having suffered multiple burns from sleeping too close to a heating radiator and other skin lesions.
Pathology: Gutierrez-Quintana et al. (2023): "Histopathological evaluations of the brain, spinal cord and sensory ganglia were normal."
Breed:
Mixed Breed (Dog) (VBO_0200902).
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:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SCN9A | sodium channel, voltage-gated, type IX, alpha subunit | Canis lupus familiaris | 36 | NC_006618.2 (14395064..14302838) | SCN9A | 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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1526 | Mixed Breed (Dog) | Congenital insensitivity to pain | SCN9A | missense | Naturally occurring variant | UU_Cfam_GSD_1.0 | 36 | g.11652662G>A | c.2761C>T | p.(R921C) | XM_038584713.1; XP_038440641.1 | 2023 | 36630088 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002616-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2023 | Cocostîrc, V., Paștiu, A.I., Pusta, D.L. : |
| An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) 13:3568, 2023. Pubmed reference: 38003185. DOI: 10.3390/ani13223568. | |
| Gutierrez-Quintana, R., Christen, M., Faller, K.M.E., Guevar, J., Jagannathan, V., Leeb, T. : | |
| SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain. J Vet Intern Med 37:230-235, 2023. Pubmed reference: 36630088. DOI: 10.1111/jvim.16610. | |
| Gutierrez-Quintana, R., Christen, M., Faller, K.M.E., Guevar, J., Jagannathan, V., Leeb, T. : | |
| Response to letter regarding "SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain". J Vet Intern Med 37:793, 2023. Pubmed reference: 37083220. DOI: 10.1111/jvim.16707. | |
| Ishikawa, T., Aoki, H. : | |
| Letter regarding "SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain"-Navigating the pathogenicity of candidate gene mutations: Spotlight on paralog Nav genes. J Vet Intern Med 37:791-792, 2023. Pubmed reference: 37083183. DOI: 10.1111/jvim.16708. |
Edit History
- Created by Imke Tammen2 on 23 Jan 2023
- Changed by Tosso Leeb on 25 Jan 2023