Dataset Information

SLC25A12 Missense Variant in Nova Scotia Duck Tolling Retrievers Affected by Cerebellar Degeneration-Myositis Complex (CDMC).

ABSTRACT: We investigated two litters of distantly related Nova Scotia Duck Tolling Retrievers (NSDTR), of which four puppies were affected by cerebellar signs with or without neuromuscular weakness. The phenotype was termed cerebellar degeneration—myositis complex (CDMC). We suspected a heritable condition and initiated a genetic analysis. The genome of one affected dog was sequenced and compared to 565 control genomes. This search yielded a private protein-changing SLC25A12 variant in the affected dog, XM_038584842.1:c.1337C>T, predicted to result in the amino acid change XP_038440770.1:(p.Pro446Leu). The genotypes at the variant co-segregated with the phenotype as expected for a monogenic autosomal recessive mode of inheritance in both litters. Genotyping of 533 additional NSDTR revealed variant allele frequencies of 3.6% and 1.3% in a European and a North American cohort, respectively. The available clinical and biochemical data, together with current knowledge about SLC25A12 variants and their functional impact in humans, mice, and dogs, suggest the p.Pro446Leu variant is a candidate causative defect for the observed phenotype in the affected dogs.

SUBMITTER: Christen M

PROVIDER: S-EPMC9319113 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature

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<i>SLC25A12</i> Missense Variant in Nova Scotia Duck Tolling Retrievers Affected by Cerebellar Degeneration-Myositis Complex (CDMC).

Christen Matthias M Rupp Stefan S Van Soens Iris I Bhatti Sofie F M SFM Matiasek Kaspar K von Klopmann Thilo T Jagannathan Vidhya V Madden Indiana I Batcher Kevin K Bannasch Danika D Leeb Tosso T

Genes 20220709 7

We investigated two litters of distantly related Nova Scotia Duck Tolling Retrievers (NSDTR), of which four puppies were affected by cerebellar signs with or without neuromuscular weakness. The phenotype was termed cerebellar degeneration—myositis complex (CDMC). We suspected a heritable condition and initiated a genetic analysis. The genome of one affected dog was sequenced and compared to 565 control genomes. This search yielded a private protein-changing SLC25A12 variant in the affected dog, ...[more]

PMID: 35886006

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Project description:BackgroundThe Nova Scotia Duck Tolling Retriever (NSDTR) has previously been highlighted as a breed at risk for developing immune mediated diseases and cancer. The immune response is of great importance for the development of neoplastic disease and a dysregulated immune response may predispose to cancer. Two of the commonly seen immune mediated diseases in NSDTRs are immune mediated rheumatic disease (IMRD), which bears similarities to systemic lupus erythematosus (SLE) affecting humans, and steroid-responsive meningitis-arteritis (SRMA), which is a non-infectious inflammation of the meninges and the leptomeningeal vessels. The aim of this survey study was to investigate the lifetime prevalence of immune mediated diseases and tumors among Swedish NSDTRs based on owners' information. The study design was cross-sectional. A questionnaire was sent to 4102 persons who owned or had previously owned a NSDTR. The questions concerned information about the dog and its overall health status as well as specific diseases.ResultsThe response rate was 30%, including 935 live NSDTRs, corresponding to approximately 20% of the current population registered in Sweden (n = 4564), and 177 dead dogs. The surveyed dogs were spread over different ages and sex and corresponded to the typical demographic profile of the general dog population. Of the 935 individuals that were alive, 28 dogs (3%) were reported as previously diagnosed with IMRD and 33 dogs (3.5%) were reported as previously diagnosed with SRMA, one dog was reported to have been diagnosed with both SRMA and IMRD. There were 129 dogs (14%) reported to have or have had a neoplasia of some kind. For the dead dogs (n = 177), almost 40% of the owners reported neoplasia as the main reason for death/euthanasia.ConclusionThis study reports an estimated lifetime prevalence of IMRD and SRMA, in the studied population of Swedish NSDTRs, of 3.0 and 3.5% respectively. In this study, 14% of the living dogs (n = 935) were reported to have a neoplasia of some kind and almost 40% of the deceased dogs (n = 177) were euthanized due to neoplasia or suspicion of it.

Project description:BackgroundSARS-CoV-2 seroprevalence monitors cumulative infection rates irrespective of case testing protocols. We aimed to describe Nova Scotia blood donor seroprevalence in relation to public health policy and reported data over the course of the COVID-19 pandemic (May 2020 to August 2022).MethodsMonthly random Nova Scotia blood donation samples (24,258 in total) were tested for SARS-CoV-2 infection antibodies (anti-nucleocapsid) from May 2020 to August 2022, and vaccination antibodies (anti-spike) from January 2021 to August 2022. Multivariable logistic regression for infection antibodies and vaccination antibodies separately with month, age, sex, and racialization identified independent predictors. The provincial nucleic acid amplification test (NAAT)-positive case rate over the pandemic was calculated from publicly available data.ResultsAnti-N seroprevalence was 3.8% in January 2022, increasing to 50.8% in August 2022. The general population COVID-19 case rate was 3.5% in January 2022, increasing to 12.5% in August 2022. The percentage of NAAT-positive samples in public health laboratories increased from 1% in November 2021 to a peak of 30.7% in April 2022 with decreasing numbers of tests performed. Higher proportions of younger donors as well as Black, Indigenous, and racialized blood donors were more likely to have infection antibodies (p < 0.01). Vaccination antibodies increased to 100% over 2021, initially in older donors (60+ years), and followed by progressively younger age groups.ConclusionsSARS-CoV-2 infection rates were relatively low in Nova Scotia until the more contagious Omicron variant dominated, after which about half of Nova Scotia donors had been infected despite most adults being vaccinated (although severity was much lower in vaccinated individuals). Most COVID-19 cases were detected by NAAT until Omicron arrived. When NAAT testing priorities focused on high-risk individuals, infection rates were better reflected by seroprevalence.

Project description:BackgroundJuvenile idiopathic arthritis (JIA) is the most common childhood rheumatic illness. There is little published data on the financial burden of this illness. The primary objective of this study was to determine the annual costs borne by families of a child with JIA living in Nova Scotia (NS).MethodsAll families in NS with a child followed in the Pediatric Rheumatology Clinic at the Izaak Walton Killam Health Centre (IWK) in 2009 were mailed a self-report questionnaire. The questionnaire evaluated disease related costs, gross household income and perceived financial burden. Dillman's method was used to optimize return rates. Descriptive statistics were used to summarize results. Spearman's correlation coefficient was used to assess the relationship of distance from the IWK and cost. The Mann-Whitney U test was used to compare median costs between groups.ResultsOf 172 possible respondents, we received 54 completed questionnaires and 11 blank questionnaires (overall response rate 31.4%). Approximately one third (35.9%) of parents rated the financial burden as moderate or large and 36% rated financial resources available as poor. The median annual total cost per patient was $619.50 CAD (range 0, $5535) which was a median 0.7% (range 0, 37%) of gross household incomes. The largest expense for families was visit related costs. There was not a significant relationship between total annual costs and distance from the IWK (rs?=?0.18, P?=?0.2). Families of a child with oligoarthritis had significantly lower costs than the families of a child with another subtype of JIA ($359.00 CAD vs. $877.00 CAD, P?=?0.02).ConclusionsThe costs associated with having a child with JIA in NS are on average modest, but may be considerable for some families. Oligoarticular JIA is associated with smaller costs. Many families perceive the burden to be at least moderate and the availability of financial resources to be poor. Supports should be targeted to those families most in need.

Dataset Information

SLC25A12 Missense Variant in Nova Scotia Duck Tolling Retrievers Affected by Cerebellar Degeneration-Myositis Complex (CDMC).

Publications

<i>SLC25A12</i> Missense Variant in Nova Scotia Duck Tolling Retrievers Affected by Cerebellar Degeneration-Myositis Complex (CDMC).

Similar Datasets

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