Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
28
02
2019
accepted:
14
05
2019
revised:
06
05
2019
pubmed:
5
6
2019
medline:
17
6
2020
entrez:
5
6
2019
Statut:
ppublish
Résumé
Clinical, pathological, and genetic findings of a primary hereditary ataxia found in a Malinois dog family are described and compared with its human counterpart. Based on the family history and the phenotype/genotype relationships already described in humans and dogs, a causal variant was expected to be found in KCNJ10. Rather surprisingly, whole-exome sequencing identified the SLC12A6 NC_006612.3(XM_014109414.2): c.178_181delinsCATCTCACTCAT (p.(Met60Hisfs*14)) truncating variant. This loss-of-function variant perfectly segregated within the affected Malinois family in an autosomal recessive way and was not found in 562 additional reference dogs from 18 different breeds, including Malinois. In humans, SLC12A6 variants cause "agenesis of the corpus callosum with peripheral neuropathy" (ACCPN, alias Andermann syndrome), owing to a dysfunction of this K
Identifiants
pubmed: 31160700
doi: 10.1038/s41431-019-0432-3
pii: 10.1038/s41431-019-0432-3
pmc: PMC6777613
doi:
Substances chimiques
Biomarkers
0
SLC12A6 protein, human
0
Symporters
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1561-1568Références
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