A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog

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Hitti-Malin , R J , Burmeister , L M , Lingaas , F , Kaukonen , M , Pettinen , I , Lohi , H , Sargan , D & Mellersh , C S 2021 , ' A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog ' , Genes , vol. 12 , no. 11 , 1771 . https://doi.org/10.3390/genes12111771

Title: A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog
Author: Hitti-Malin, Rebekkah J.; Burmeister, Louise M.; Lingaas, Frode; Kaukonen, Maria; Pettinen, Inka; Lohi, Hannes; Sargan, David; Mellersh, Cathryn S.
Contributor organization: Medicum
Hannes Tapani Lohi / Principal Investigator
Veterinary Biosciences
Department of Medical and Clinical Genetics
Helsinki One Health (HOH)
Veterinary Genetics
Biosciences
Date: 2021-11
Language: eng
Number of pages: 19
Belongs to series: Genes
ISSN: 2073-4425
DOI: https://doi.org/10.3390/genes12111771
URI: http://hdl.handle.net/10138/337718
Abstract: Canine progressive retinal atrophy (PRA) describes a group of hereditary diseases characterized by photoreceptor cell death in the retina, leading to visual impairment. Despite the identification of multiple PRA-causing variants, extensive heterogeneity of PRA is observed across and within dog breeds, with many still genetically unsolved. This study sought to elucidate the causal variant for a distinct form of PRA in the Shetland sheepdog, using a whole-genome sequencing approach. Filtering variants from a single PRA-affected Shetland sheepdog genome compared to 176 genomes of other breeds identified a single nucleotide variant in exon 11 of the Bardet-Biedl syndrome-2 gene (BBS2) (c.1222G > C; p.Ala408Pro). Genotyping 1386 canids of 155 dog breeds, 15 cross breeds and 8 wolves indicated the c.1222G > C variant was only segregated within Shetland sheepdogs. Out of 505 Shetland sheepdogs, seven were homozygous for the variant. Clinical history and photographs for three homozygotes indicated the presence of a novel phenotype. In addition to PRA, additional clinical features in homozygous dogs support the discovery of a novel syndromic PRA in the breed. The development and utilization of a diagnostic DNA test aim to prevent the mutation from becoming more prevalent in the breed.
Subject: canine
PRA
retinal degeneration
BBS
BBS2
syndromic
LINKED RETINITIS-PIGMENTOSA
MUTATIONS
FAMILIES
MODEL
MOUSE
RETINOPATHY
DIAGNOSIS
FRAMEWORK
PROTEINS
DISEASE
413 Veterinary science
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion


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