| Title |
Neonatal encephalocardiomyopathy caused by mutations in VARS2
|
|---|---|
| Published in |
Metabolic Brain Disease, August 2016
|
| DOI | 10.1007/s11011-016-9890-2 |
| Pubmed ID | |
| Authors |
Fabian Baertling, Bader Alhaddad, Annette Seibt, Sonja Budaeus, Thomas Meitinger, Tim M. Strom, Ertan Mayatepek, Jörg Schaper, Holger Prokisch, Tobias B. Haack, Felix Distelmaier |
| Abstract |
VARS2 encodes a mitochondrial aminoacyl-tRNA-synthetase. Mutations in VARS2 have recently been identified as a cause of mitochondrial encephalomyopathy in three individuals. However, clinical information remained scarce. Exome sequencing lead us to identify compound heterozygous pathogenic VARS2 variants in a boy presenting with severe lactic acidosis, hypertrophic cardiomyopathy, epilepsy, and abnormalities on brain imaging including hypoplasia of corpus callosum and cerebellum as well as a massive lactate peak on MR-spectroscopy. Studies in patient-derived fibroblasts confirmed the functional relevance of the identified VARS2 variants. Our report expands the phenotypic spectrum associated with this rare mitochondrial defect, in that VARS2 deficiency may also cause severe neonatal presentations with cardiac involvement and structural brain abnormalities. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 28 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 28 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 5 | 18% |
| Researcher | 3 | 11% |
| Unspecified | 2 | 7% |
| Student > Master | 2 | 7% |
| Lecturer | 1 | 4% |
| Other | 5 | 18% |
| Unknown | 10 | 36% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 10 | 36% |
| Biochemistry, Genetics and Molecular Biology | 3 | 11% |
| Unspecified | 2 | 7% |
| Nursing and Health Professions | 1 | 4% |
| Unknown | 12 | 43% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 20 August 2016.
All research outputs
#15,381,002
of 22,882,389 outputs
Outputs from Metabolic Brain Disease
#581
of 1,055 outputs
Outputs of similar age
#235,779
of 364,241 outputs
Outputs of similar age from Metabolic Brain Disease
#13
of 26 outputs
Altmetric has tracked 22,882,389 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,055 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.3. This one is in the 37th percentile – i.e., 37% of its peers scored the same or lower than it.
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We're also able to compare this research output to 26 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 50% of its contemporaries.