| Title |
Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy
|
|---|---|
| Published in |
Journal of Autism and Developmental Disorders, June 2015
|
| DOI | 10.1007/s10803-015-2484-8 |
| Pubmed ID | |
| Authors |
Heidi S. Lumish, Julia Wynn, Orrin Devinsky, Wendy K. Chung |
| Abstract |
Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a 17-year-old girl with ASD, developmental delay, ID, seizures, Chiari I malformation, macrocephaly, and short stature. She was found by WES to have a de novo c.2028delT (P677LfsX19) mutation in the SET domain-containing protein 2 (SETD2) gene, predicted to be gene-damaging. This case offers evidence for the potential the role of SETD2 in ASD and ID and provides further detail about the phenotypic manifestations of mutations in SETD2. |
X Demographics
The data shown below were collected from the profile of 1 X user 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 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 105 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Ethiopia | 1 | <1% |
| United States | 1 | <1% |
| Canada | 1 | <1% |
| Brazil | 1 | <1% |
| Unknown | 101 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 18 | 17% |
| Student > Ph. D. Student | 15 | 14% |
| Student > Master | 15 | 14% |
| Student > Doctoral Student | 8 | 8% |
| Student > Postgraduate | 5 | 5% |
| Other | 15 | 14% |
| Unknown | 29 | 28% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 17 | 16% |
| Medicine and Dentistry | 14 | 13% |
| Agricultural and Biological Sciences | 13 | 12% |
| Psychology | 12 | 11% |
| Neuroscience | 6 | 6% |
| Other | 9 | 9% |
| Unknown | 34 | 32% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. 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 30 August 2017.
All research outputs
#7,538,708
of 25,837,817 outputs
Outputs from Journal of Autism and Developmental Disorders
#2,619
of 5,452 outputs
Outputs of similar age
#82,494
of 279,828 outputs
Outputs of similar age from Journal of Autism and Developmental Disorders
#45
of 71 outputs
Altmetric has tracked 25,837,817 research outputs across all sources so far. This one has received more attention than most of these and is in the 69th percentile.
So far Altmetric has tracked 5,452 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 13.5. This one has gotten more attention than average, scoring higher than 50% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 279,828 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 69% of its contemporaries.
We're also able to compare this research output to 71 others from the same source and published within six weeks on either side of this one. This one is in the 36th percentile – i.e., 36% of its contemporaries scored the same or lower than it.