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

Considered a defect: 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 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 , 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 , 2023. Pubmed reference: 37083183. DOI: 10.1111/jvim.16708.

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  • Created by Imke Tammen2 on 23 Jan 2023
  • Changed by Tosso Leeb on 25 Jan 2023