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:

• MONDO:0014433: Bardet-Biedl syndrome 4

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: 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: