OMIA 002045-9615 : Bardet-Biedl syndrome 4 in Canis lupus familiaris
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: Hungarian Puli. 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.
|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|
|Hungarian Puli||Bardet-Biedl syndrome 4||BBS4||nonsense (stop-gain)||CanFam3.1||30||g.36063748A>T||c.58A>T||p.K20*||2017||28533336|
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., Bathgate, R., Willet, C.E., Kaukonen, M.K., Mascord, L.J., Lohi, H.T., Wade, C.M. :|
|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.|
|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 :, 2017. Pubmed reference: 28378943. DOI: 10.1111/age.12553.|
- 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