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PIGO deficiency: palmoplantar keratoderma and novel mutations

Overview of attention for article published in Orphanet Journal of Rare Diseases, May 2017
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Title
PIGO deficiency: palmoplantar keratoderma and novel mutations
Published in
Orphanet Journal of Rare Diseases, May 2017
DOI 10.1186/s13023-017-0654-9
Pubmed ID
Authors

Morren, Marie-Anne, Jaeken, Jaak, Visser, Gepke, Salles, Isabelle, Van Geet, Chris, Simeoni, Ilenia, Turro, Ernest, Freson, Kathleen, Marie-Anne Morren, Jaak Jaeken, Gepke Visser, Isabelle Salles, Chris Van Geet, Ilenia Simeoni, Ernest Turro, Kathleen Freson

Abstract

Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and hyperphosphatasemia. Whole exome sequencing was performed in a boy with dysmorphism, psychomotor disability, epilepsy, palmoplantar keratoderma, hyperphosphatasemia and platelet dysfunction without a clinical bleeding phenotype. Two novel variants in PIGO were detected. The missense variant encoding p. His871Pro was inherited from the boy's father while the frameshift variant encoding p. Arg604ProfsTer40 was maternally inherited. A boy with two novel PIGO variants is reported. The skin phenotype and platelet dysfunction in this patient have not been described in previously reported patients with PIGO deficiency but it is of course uncertain whether these are caused by this disorder. The literature on PIGO deficiency is reviewed.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Other 3 20%
Student > Postgraduate 3 20%
Student > Ph. D. Student 2 13%
Student > Master 2 13%
Student > Doctoral Student 1 7%
Other 1 7%
Unknown 3 20%
Readers by discipline Count As %
Medicine and Dentistry 3 20%
Biochemistry, Genetics and Molecular Biology 3 20%
Neuroscience 2 13%
Agricultural and Biological Sciences 2 13%
Psychology 1 7%
Other 1 7%
Unknown 3 20%

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 27 May 2017.
All research outputs
#9,747,612
of 11,026,397 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,127
of 1,229 outputs
Outputs of similar age
#220,699
of 265,008 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#25
of 27 outputs
Altmetric has tracked 11,026,397 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,229 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.8. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 27 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.