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Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report

Overview of attention for article published in BMC Medical Genetics, December 2017
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  • Above-average Attention Score compared to outputs of the same age (52nd percentile)
  • Good Attention Score compared to outputs of the same age and source (77th percentile)

Mentioned by

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4 tweeters

Citations

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4 Dimensions

Readers on

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11 Mendeley
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Title
Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report
Published in
BMC Medical Genetics, December 2017
DOI 10.1186/s12881-017-0507-3
Pubmed ID
Authors

Qiongyi Hu, Jing Liu, Yi Wang, Jiucun Wang, Hui Shi, Yue Sun, Xinyao Wu, Chengde Yang, Jialin Teng

Abstract

Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive genetic disease that is characterized by pain, stiffness and enlargement of multiple joints with an age of onset between 3 and 8 years old. Mutations in the WISP3 (Wnt1-inducible signal pathway) gene are known to be the cause of PPD. We present a case of delayed-onset PPD in a Chinese man. The 35-year-old proband presented with an almost 20-year history of pain and limitations in mobility in multiple joints. Based on the clinical manifestations, the patient was diagnosed with PPD; however, there was no specific evidence to confirm this diagnosis. Through mutational analyses, two WIPS3 mutations in exon 4, including a novel frameshift mutation (c.670dupA) in the paternal allele and an already described nonsense mutation (c.756C > A, p.Cys252*) in the maternal allele, were identified in the proband. Thus, the patient was diagnosed with PPD. Furthermore, we found that the proband's son only carried one of the mutations (c.670dupA) and therefore determined that he would not be affected by PPD in the future. In this case, we successfully diagnosed the disease that the proband was affected precisely after the reunion of clinical diagnosis and genetic analysis. These findings demonstrate the clinical utility of genetic analysis to diagnose skeletal dysplasia and guide genetic counseling.

Twitter Demographics

The data shown below were collected from the profiles of 4 tweeters 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 11 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 11 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 2 18%
Student > Bachelor 1 9%
Other 1 9%
Researcher 1 9%
Student > Postgraduate 1 9%
Other 0 0%
Unknown 5 45%
Readers by discipline Count As %
Medicine and Dentistry 3 27%
Biochemistry, Genetics and Molecular Biology 1 9%
Agricultural and Biological Sciences 1 9%
Nursing and Health Professions 1 9%
Unknown 5 45%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 18 May 2018.
All research outputs
#7,758,813
of 13,793,900 outputs
Outputs from BMC Medical Genetics
#299
of 835 outputs
Outputs of similar age
#182,041
of 394,700 outputs
Outputs of similar age from BMC Medical Genetics
#18
of 80 outputs
Altmetric has tracked 13,793,900 research outputs across all sources so far. This one is in the 42nd percentile – i.e., 42% of other outputs scored the same or lower than it.
So far Altmetric has tracked 835 research outputs from this source. They receive a mean Attention Score of 2.8. This one has gotten more attention than average, scoring higher than 62% 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 394,700 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 52% of its contemporaries.
We're also able to compare this research output to 80 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 77% of its contemporaries.