About: TSEN54 missense variant in Standard Schnauzers with leukodystrophy

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About: TSEN54 missense variant in Standard Schnauzers with leukodystrophy Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : wasabi.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	TSEN54 missense variant in Standard Schnauzers with leukodystrophy
Creator	Anderegg, Linda Jagannathan, Vidhya Nessler, Jasmin Schmutz, Isabelle Tipold, Andrea Barsh, Gregory Baumgä Rtner 1 ‡, Wolfgang Hü Nerfauthid, Enrice Kyö Stilä, Kaisa Leebid, Tosso Lohiid, Hannes Stö Rkid, Theresa
Source	PMC
abstract	We report a hereditary leukodystrophy in Standard Schnauzer puppies. Clinical signs occurred shortly after birth or started at an age of under 4 weeks and included apathy, dysphoric vocalization, hypermetric ataxia, intension tremor, head tilt, circling, proprioceptive deficits, seizures and ventral strabismus consistent with a diffuse intracranial lesion. Magnetic resonance imaging revealed a diffuse white matter disease without mass effect. Macroscopically, the cerebral white matter showed a gelatinous texture in the centrum semiovale. A mild hydrocephalus internus was noted. Histopathologically, a severe multifocal reduction of myelin formation and moderate diffuse edema without inflammation was detected leading to the diagnosis of leukodystrophy. Combined linkage analysis and homozygosity mapping in two related families delineated critical intervals of approximately 29 Mb. The comparison of whole genome sequence data of one affected Standard Schnauzer to 221 control genomes revealed a single private homozygous protein changing variant in the critical intervals, TSEN54:c.371G>A or p.(Gly124Asp). TSEN54 encodes the tRNA splicing endonuclease subunit 54. In humans, several variants in TSEN54 were reported to cause different types of pontocerebellar hypoplasia. The genotypes at the c.371G>A variant were perfectly associated with the leukodystrophy phenotype in 12 affected Standard Schnauzers and almost 1000 control dogs from different breeds. These results suggest that TSEN54:c.371G>A causes the leukodystrophy. The identification of a candidate causative variant enables genetic testing so that the unintentional breeding of affected Standard Schnauzers can be avoided in the future. Our findings extend the known genotype-phenotype correlation for TSEN54 variants.
has issue date	2019-10-04(xsd:dateTime)
bibo:doi	10.1371/journal.pgen.1008411
bibo:pmid	31584937
has license	cc-by
sha1sum (hex)	afd83a90943b4d9103daaf9507267b65e257c85c
schema:url	https://doi.org/10.1371/journal.pgen.1008411
resource representing a document's title	TSEN54 missense variant in Standard Schnauzers with leukodystrophy
has PubMed Central identifier	PMC6795476
has PubMed identifier	31584937
schema:publication	PLoS Genet
resource representing a document's body	covid:afd83a90943b4d9103daaf9507267b65e257c85c#body_text
is schema:about of	named entity 'GENETIC TESTING' named entity '4 WEEKS' named entity 'CENTRUM SEMIOVALE' named entity 'RESULTS' named entity 'APPROXIMATELY' named entity 'FUTURE' named entity 'KNOWN' named entity 'INCLUDED' named entity 'LEUKODYSTROPHY' named entity 'CANDIDATE' named entity 'PONTOCEREBELLAR HYPOPLASIA' named entity 'VENTRAL' named entity 'REVEALED' named entity 'DOGS' named entity 'RELATED' named entity 'HOMOZYGOSITY MAPPING' named entity 'REPORT' named entity 'INTRACRANIAL LESION' named entity 'endonuclease' named entity 'causative' named entity 'disease' named entity 'apathy' named entity 'protein' named entity 'leukodystrophy' named entity 'NOTED' named entity 'INFLAMMATION' named entity 'ATAXIA' named entity 'IDENTIFICATION' named entity 'EDEMA' named entity 'MODERATE' named entity 'DYSPHORIC' named entity 'SEQUENCE DATA' named entity 'DELINEATED' named entity 'CONTROL' named entity 'HYDROCEPHALUS INTERNUS' named entity 'ENABLES' named entity 'PROPRIOCEPTIVE' named entity 'STRABISMUS' named entity 'EXTEND' named entity 'SEIZURES' named entity 'DEFICITS' named entity 'GENOME SEQUENCE' named entity 'PHENOTYPE' named entity 'HEREDITARY' named entity 'BREEDING' named entity 'MYELIN FORMATION' named entity 'DIAGNOSIS' named entity 'CAUSE' named entity 'DIFFERENT' named entity 'STANDARD SCHNAUZER' named entity 'SUMMARY' named entity 'TSEN54' named entity 'LEUKODYSTROPHY' named entity 'STANDARD' named entity 'SINGLE' named entity 'PROTEIN ' named entity 'DIFFUSE' named entity 'HUMANS' named entity 'OCCURRED' named entity 'CHANGING' named entity 'TREMOR' named entity 'DETECTED' named entity 'VOCALIZATION' named entity 'CAUSES' named entity 'CONSISTENT WITH' named entity 'SEVERE' named entity 'TYPES' named entity 'CRITICAL' named entity 'INTERVALS' named entity 'AGE'

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