OMIA:002838-9615 : Pontocerebellar hypoplasia, AMPD2-related in Canis lupus familiaris (dog)

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 102771 (gene) , 615809 (trait)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Probably autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2024

Species-specific name: Cirneco oculo-neurological syndrome

Species-specific symbol: CONS

Molecular basis: Murgiano et al. (2024) "undertook homozygosity mapping and whole-genome sequencing ... [and] detected a 1-bp deletion in chromosome 6 [in affected Cirneco dell′ Etna dogs] that was predicted to cause a frameshift and premature stop codon within the canine AMPD2 gene, which encodes adenosine monophosphate deaminase, an enzyme that converts adenosine 5′-monophosphate (AMP) to inosine 5’-monophosphate (IMP). Genotyping of the available Cirneco population suggested perfect segregation between cases and controls for the variant. Moreover, this variant was absent in canine genomic databases comprised of thousands of unaffected dogs." The authors acknowledge that the low number of cases and of genotyped controls of this rare breed is a limitation of this study. 

Clinical features: Murgiano et al. (2024) reported two Cirneco dell′ Etna dogs from the same litter with retinal degeneration, along with tremors, gait alteration and signs described as either atypical seizures or paroxysmal dyskinesias.
"Analysis of the brain MRI ... showed a discrete area of bilaterally symmetric, peri-ventricular T2 hyperintensity ... . This signal abnormality extended towards the internal capsule, where it was accompanied by increased T2 signal within the caudate nuclei bilaterally (right greater than left). There was also moderate ventriculomegaly involving the lateral ventricles. This appeared to result from diffuse thinning of cerebral white matter, most notable in the ventral temporal lobe. The results of the CSF analysis were within normal ranges... . The MRI of the cervical spine did not reveal any abnormalities."

Breed: Cirneco dell'Etna (Dog) (VBO_0200365).
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
AMPD2 adenosine monophosphate deaminase 2 Canis lupus familiaris 6 NC_051810.1 (42582738..42570893) AMPD2 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 Year Published PubMed ID(s) Acknowledgements
1677 Cirneco dell'Etna (Dog) Cirneco oculo-neurological syndrome AMPD2 CONS deletion, small (<=20) Naturally occurring variant UU_Cfam_GSD_1.0 6 g.42698170del c.2131del p.(D711Mfs12*)  XM_038541065.1; XP_038396993.1; NC_049227.1 2024 38397227

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002838-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2024 Murgiano, L., Niggel, J.K., Benedicenti, L., Cortellari, M., Bionda, A., Crepaldi, P., Liotta, L., Aguirre, G.K., Beltran, W.A., Aguirre, G.D. :
Frameshift variant in AMPD2 in Cirneco dell'Etna dogs with retinopathy and tremors. Genes (Basel) 15:238, 2024. Pubmed reference: 38397227. DOI: 10.3390/genes15020238.

Edit History

  • Created by Imke Tammen2 on 08 Apr 2024
  • Changed by Imke Tammen2 on 08 Apr 2024