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X Demographics
Mendeley readers
Attention Score in Context
| Title |
A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism
|
|---|---|
| Published in |
Human Mutation, April 2018
|
| DOI | 10.1002/humu.23426 |
| Pubmed ID | |
| Authors |
Thi Tuyet Mai Nguyen, Sonal Mahida, Constance Smith‐Hicks, Philippe M. Campeau |
| Abstract |
We identified an individual with a homozygous missense variant (p.Ser103Pro) in a conserved residue of the glycosylphosphatidylinositol (GPI) biosynthesis gene PIGH. This gene encodes an essential component of the phosphatidylinositol N-acetylglucosaminyltransferase complex, in the first step of the biosynthesis of GPI, a glycolipid anchor added to more than one hundred human proteins, several being critical for embryogenesis and neurological functions. The affected individual had hypotonia, moderate developmental delay, and autism. Unlike other reported individuals with GPI deficiency, the proband did not have epilepsy; however, he did have two episodes of febrile seizures. He had normal alkaline phosphatase and no brachytelephalangy. Upon analysis of the surface expression of GPI-anchored proteins on granulocytes, he was demonstrated to have GPI deficiency. This suggests that PIGH mutations may cause a syndrome with developmental delay and autism, but without an epileptic encephalopathy, and should increase the awareness of the potentially deleterious nature of biallelic variants in this gene. |
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 % |
|---|---|---|
| Unknown | 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 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 % |
|---|---|---|
| Researcher | 7 | 25% |
| Student > Doctoral Student | 3 | 11% |
| Lecturer | 3 | 11% |
| Student > Master | 3 | 11% |
| Student > Bachelor | 2 | 7% |
| Other | 5 | 18% |
| Unknown | 5 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Neuroscience | 6 | 21% |
| Biochemistry, Genetics and Molecular Biology | 4 | 14% |
| Medicine and Dentistry | 4 | 14% |
| Psychology | 3 | 11% |
| Agricultural and Biological Sciences | 1 | 4% |
| Other | 5 | 18% |
| Unknown | 5 | 18% |
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 December 2023.
All research outputs
#20,663,600
of 25,382,440 outputs
Outputs from Human Mutation
#2,588
of 2,989 outputs
Outputs of similar age
#265,430
of 339,863 outputs
Outputs of similar age from Human Mutation
#26
of 34 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one is in the 10th percentile – i.e., 10% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,989 research outputs from this source. They receive a mean Attention Score of 4.8. This one is in the 6th percentile – i.e., 6% of its peers scored the same or lower than it.
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We're also able to compare this research output to 34 others from the same source and published within six weeks on either side of this one. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.