Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606837 (gene)

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2025

Cross-species summary: Renamed from 'Degenerative encephalopathy' to 'Degenerative encephalopathy, RB1CC1-related' [16/04/2025]

History: This disorder was first described by Barker et al. (2016)

Inheritance: "Genealogical analysis supports an autosomal recessive mode of inheritance." (Barker et al., 2016)

Molecular basis: Guo et al. (2025): "Whole genome sequences (WGSs) from the DNA of affected and unaffected Nova Scotia Duck Tolling Retrievers were aligned to the Dog10K_Boxer_Tasha reference genome assembly and to the WGSs of 334 additional control dogs generated by this laboratory. ... A missense C>T variant [omia.variant:1780] was identified in RB1CC1 exon 22 chromosome 29:4891014 that was uniquely homozygous in the affected dog. This variant predicts a p.G1503R change in the amino acid sequence of RB1CC1. Genotyping of 2950 Nova Scotia Duck Tolling Retrievers at the variant locus found complete concordance between the disease phenotype and RB1CC1 genotype."

Clinical features: As summarised by Barker et al. (2016): "Clinical signs of neurological dysfunction began between 2 months and 5 years of age and were progressive in nature. They were characterized by episodes of marked movements during sleep, increased anxiety, noise phobia, and gait abnormalities. Magnetic resonance imaging documented symmetrical, progressively increasing, T2‐weighted image intensity, predominantly within the caudate nuclei, consistent with necrosis secondary to gray matter degeneration. Abnormalities were not detected on clinicopathological analysis of blood and cerebrospinal fluid, infectious disease screening or urine metabolite screening in most cases."

Pathology: Barker et al. (2016): "Postmortem examination of brain tissue identified symmetrical malacia of the caudate nuclei and axonal dystrophy within the brainstem and spinal cord."

Breed: Nova Scotia Duck Tolling Retriever (Dog) (VBO_0200964).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene: