OMIA 002032-9615 : Neuropathy, sensory in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 613115

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2016

Species-specific name: Sensory neuropathy

Species-specific symbol: SN

Molecular basis: Forman et al. (2016): "6.47 Mb inversion was identified with breakpoints in intron 3 of FAM134B (chr4:86,910,352) and in an upstream intergenic region (chr4:80,439,639) . . . All three cases were homozygous for the inversion and all 170 controls homozygous for the reference allele."

Clinical features: Forman et al. (2106): " Clinical signs start between two and seven months of age and include progressive proprioceptive ataxia with intermittent knuckling of the paws, hyperextension of the limbs, and self-mutilation wounds in the distal part of the limbs . . . . Usually, the pelvic limbs are more severely affected than the thoracic limbs. There is decreased or loss of proprioception and nociception in all limbs, and in some cases autonomic signs such as urinary incontinence and in the later stage regurgitation has also been reported (Vermeersch et al. 2005). Electrophysiological studies show decreased or absent sensory nerve compound action potentials, normal or reduced motor nerve conduction velocities and normal electromyography in the appendicular muscles."

Breed: Border Collie.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FAM134B family with sequence similarity 134, member B Canis lupus familiaris 4 NC_006586.3 (86817391..86921119) FAM134B Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Border Collie Neuropathy, sensory FAM134B inversion "6.47 Mb inversion was identified with breakpoints in intron 3 of FAM134B (chr4:86,910,352) and in an upstream intergenic region (chr4:80,439,639" 2016 27527794

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.
2016 Forman, O.P., Hitti, R.J., Pettitt, L., Jenkins, C.A., O'Brien, D.P., Shelton, G.D., De Risio, L., Gutierrez Quintana, R., Beltran, E., Mellersh, C. :
An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed. G3 (Bethesda) :, 2016. Pubmed reference: 27527794. DOI: 10.1534/g3.116.027896.
2005 Harkin, KR., Cash, WC., Shelton, GD. :
Sensory and motor neuropathy in a Border Collie. J Am Vet Med Assoc 227:1263-5, 1250, 2005. Pubmed reference: 16266014.
Vermeersch, K., Van Ham, L., Braund, KG., Bhatti, S., Tshamala, M., Chiers, K., Schrauwen, E. :
Sensory neuropathy in two Border collie puppies. J Small Anim Pract 46:295-9, 2005. Pubmed reference: 15971901.
1987 Wheeler, S.J. :
Sensory neuropathy in a Border Collie Puppy Journal of Small Animal Practice 28:281-289, 1987.

Edit History


  • Created by Frank Nicholas on 20 Aug 2016
  • Changed by Frank Nicholas on 20 Aug 2016