OMIA:002045-9615 : Bardet-Biedl syndrome 4 in Canis lupus familiaris (dog)

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 615982 (trait) , 604327 (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: 2017

Species-specific description: This disorder is a form of progressive retinal atrophy (PRA).

Inheritance: Chew et al. (2017; Animal Genetics) reported that "The pattern of inheritance for PRA in the Hungarian Puli family is consistent with the autosomal recessive form of inheritance."

Molecular basis: Chew et al. (2017; Animal Genetics) excluded 53 candidate loci in a screen of WGS data from a Hungarian Puli family trio (normal sire, normal dam and proband offspring) and from an affected half sib of the proband. By combining the above WGS data with SNP genotyping data from the CanineHD BeadChip array, Chew et al. (2017; G3) identified a likely causal variant as "A single nonsense SNP in exon 2 of BBS4 (c.58A>T, p.Lys20*) . . . [that] . . . segregates perfectly with progressive retinal atrophy in the Hungarian Puli." "This mutation encodes a premature stop codon which is expected to result in complete loss of function of the BBS4 protein".

Clinical features: Chew et al. (2017; Animal Genetics): "Diagnosis was based on ophthalmologic changes observed including vascular attenuation, hyper-reflectivity and reduced myelination in the optic nerve head."

Breed: Puli (Dog) (VBO_0201102).
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
BBS4 Bardet-Biedl syndrome 4 Canis lupus familiaris 30 NC_051834.1 (36258709..36315967) BBS4 Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
356 Puli (Dog) Bardet-Biedl syndrome 4 BBS4 nonsense (stop-gain) Naturally occurring variant CanFam3.1 30 g.36063748A>T c.58A>T p.(K20*) 2017 28533336

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2017). OMIA:002045-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2017 Chew, T., Haase, B., Willet, C.E., Wade, C.M. :
Exclusion of known progressive retinal atrophy genes for blindness in the Hungarian Puli. Anim Genet 48:500-501, 2017. Pubmed reference: 28378943. DOI: 10.1111/age.12553.
Chew, T., Haase, B., Bathgate, R., Willet, C.E., Kaukonen, M.K., Mascord, L.J., Lohi, H.T., Wade, C.M. :
A coding variant in the gene Bardet-Biedl syndrome 4 (BBS4) is associated with a novel form of canine progressive retinal atrophy. G3 (Bethesda) 7:2327-2335, 2017. Pubmed reference: 28533336. DOI: 10.1534/g3.117.043109.

Edit History

  • Created by Frank Nicholas on 26 Sep 2016
  • Changed by Frank Nicholas on 23 May 2017
  • Changed by Frank Nicholas on 01 Jun 2017
  • Changed by Frank Nicholas on 02 Jun 2017