OMIA:002045-9615 : Bardet-Biedl syndrome 4 in Canis lupus familiaris (dog)
Categories: Vision / eye phene
Links to MONDO diseases:
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."
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|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|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|356||Hungarian Puli||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
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.|
- 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