ArticleEuropean journal of human genetics : EJHG2017
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
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- Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals.Frontiers in veterinary science · 2024Article
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- Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant.Journal of veterinary internal medicine · 2023Article
- Deletion of the SELENOP gene leads to CNS atrophy with cerebellar ataxia in dogs.PLoS genetics · 2021Article
- International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification.Journal of veterinary internal medicine · 2021Article
- Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.Human genomics · 2019Article
- NovelFrontiers in genetics · 2019Article
- A SINE Insertion inG3 (Bethesda, Md.) · 2017Article
- A Missense Variant inG3 (Bethesda, Md.) · 2017Article
- Of dogs and men.European journal of human genetics : EJHG · 2017Article
- Phenotypic and genetic aspects of hereditary ataxia in dogs.Journal of veterinary internal medicineReview
- Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia.Journal of veterinary internal medicineArticle
Corrections and comments
- Commented on byOf dogs and men.2017
Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
SeSAME/EAST syndrome is a multisystemic disorder in humans, characterised by seizures, sensorineural deafness, ataxia, developmental delay and electrolyte imbalance. It is exclusively caused by homozygous or compound heterozygous variations in the KCNJ10 gene. Here we describe a similar syndrome in two families belonging to the Malinois dog breed, based on clinical, neurological, electrodiagnostic and histopathological examination. Genetic analysis detected a novel pathogenic KCNJ10 c.986T>C (p.(Leu329Pro)) variant that is inherited in an autosomal recessive way. This variant has an allele frequency of 2.9% in the Belgian Malinois population, but is not found in closely related dog breeds or in dog breeds where similar symptoms have been already described. The canine phenotype is remarkably similar to humans, including ataxia and seizures. In addition, in half of the dogs clinical and electrophysiological signs of neuromyotonia were observed. Because there is currently no cure and treatment is nonspecific and unsatisfactory, this canine translational model could be used for further elucidating the genotype/phenotype correlation of this monogenic multisystem disorder and as an excellent intermediate step for drug safety testing and efficacy evaluations before initiating human studies.
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