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Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

Overview of attention for article published in BMC Medical Genomics, October 2017
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (58th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (57th percentile)

Mentioned by

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6 tweeters

Citations

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6 Dimensions

Readers on

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18 Mendeley
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Title
Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders
Published in
BMC Medical Genomics, October 2017
DOI 10.1186/s12920-017-0298-6
Pubmed ID
Authors

Shanshan Xu, Yanjie Fan, Yu Sun, Lili Wang, Xuefan Gu, Yongguo Yu

Abstract

Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are autosomal dominant developmental disorders. NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS-MAPK pathway, including PTPN11, RAF1, BRAF, and MAP2K. In this study, we diagnosed ten NS or NSML patients via targeted sequencing or whole exome sequencing (TS/WES). TS/WES was performed to identify mutations in ten Chinese patients who exhibited the following manifestations: potential facial dysmorphisms, short stature, congenital heart defects, and developmental delay. Sanger sequencing was used to confirm the suspected pathological variants in the patients and their family members. TS/WES revealed three mutations in the PTPN11 gene, three mutations in RAF1 gene, and four mutations in BRAF gene in the NS and NSML patients who were previously diagnosed based on the abovementioned clinical features. All the identified mutations were determined to be de novo mutations. However, two patients who carried the same mutation in the RAF1 gene presented different clinical features. One patient with multiple lentigines was diagnosed with NSML, while the other patient without lentigines was diagnosed with NS. In addition, a patient who carried a hotspot mutation in the BRAF gene was diagnosed with NS instead of cardiofaciocutaneous syndrome (CFCS). TS/WES has emerged as a useful tool for definitive diagnosis and accurate genetic counseling of atypical cases. In this study, we analyzed ten Chinese patients diagnosed with NS and related disorders and identified their correspondingPTPN11, RAF1, and BRAF mutations. Among the target genes, BRAF showed the same degree of correlation with NS incidence as that of PTPN11 or RAF1.

Twitter Demographics

The data shown below were collected from the profiles of 6 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 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 18 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 17%
Researcher 3 17%
Student > Bachelor 2 11%
Student > Ph. D. Student 1 6%
Student > Doctoral Student 1 6%
Other 2 11%
Unknown 6 33%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 6 33%
Medicine and Dentistry 3 17%
Agricultural and Biological Sciences 2 11%
Neuroscience 1 6%
Unknown 6 33%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 06 November 2017.
All research outputs
#8,621,802
of 16,534,657 outputs
Outputs from BMC Medical Genomics
#326
of 877 outputs
Outputs of similar age
#131,395
of 325,608 outputs
Outputs of similar age from BMC Medical Genomics
#19
of 45 outputs
Altmetric has tracked 16,534,657 research outputs across all sources so far. This one is in the 47th percentile – i.e., 47% of other outputs scored the same or lower than it.
So far Altmetric has tracked 877 research outputs from this source. They receive a mean Attention Score of 4.7. This one has gotten more attention than average, scoring higher than 60% 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 325,608 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 58% of its contemporaries.
We're also able to compare this research output to 45 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 57% of its contemporaries.