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

Possibly relevant human trait(s) and/or gene(s) (MIM number): 615982

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: 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_006612.3 (36058932..36109206) BBS4 Homologene, Ensembl, NCBI gene

Variants

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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) CanFam 3.1 30 g.36063748A>T c.58A>T p.K20* 2017 28533336

References


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.

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