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KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant

Overview of attention for article published in BMC Medical Genetics, October 2015
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Mentioned by

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2 tweeters

Citations

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16 Dimensions

Readers on

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11 Mendeley
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Title
KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant
Published in
BMC Medical Genetics, October 2015
DOI 10.1186/s12881-015-0247-1
Pubmed ID
Authors

Huijun Wang, Yanyan Qian, Bingbing Wu, Ping Zhang, Wenhao Zhou

Abstract

Linear nevus sebaceous syndrome (LNSS) is a multisystem disorder that includes nevus sebaceous and central nervous system, ocular and skeletal anomalies. We report the first case of a KRAS G12D mosaic mutation in a patient diagnosed with LNSS. A 3-month-old female with a clinical diagnosis of LNSS presented with intermittent epilepsy. Her mother carefully collected a skin lesion sample from scratched-off scurf obtained from the patient's nails. DNA was extracted, and long-range PCR was performed to amplify the KRAS gene, which was then analyzed by next-generation sequencing. The results revealed the presence of a low-level heterozygous mutation in the KRAS gene (c.35C>T; p.G12D, 5 %). These findings suggest that the KRAS somatic mosaic mutation in this patient may have caused her skin and eye lesions and epilepsy. With this correct diagnosis, the infant can be effectively treated.

Twitter Demographics

The data shown below were collected from the profiles of 2 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 %
Other 2 18%
Student > Ph. D. Student 2 18%
Student > Postgraduate 2 18%
Researcher 2 18%
Student > Bachelor 1 9%
Other 0 0%
Unknown 2 18%
Readers by discipline Count As %
Medicine and Dentistry 5 45%
Neuroscience 2 18%
Biochemistry, Genetics and Molecular Biology 2 18%
Unknown 2 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 02 November 2015.
All research outputs
#3,090,096
of 6,520,864 outputs
Outputs from BMC Medical Genetics
#241
of 486 outputs
Outputs of similar age
#112,048
of 208,264 outputs
Outputs of similar age from BMC Medical Genetics
#11
of 21 outputs
Altmetric has tracked 6,520,864 research outputs across all sources so far. This one is in the 29th percentile – i.e., 29% of other outputs scored the same or lower than it.
So far Altmetric has tracked 486 research outputs from this source. They receive a mean Attention Score of 2.6. This one is in the 38th percentile – i.e., 38% of its peers scored the same or lower than it.
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 208,264 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 36th percentile – i.e., 36% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 21 others from the same source and published within six weeks on either side of this one. This one is in the 23rd percentile – i.e., 23% of its contemporaries scored the same or lower than it.