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New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy

Overview of attention for article published in BMC Neurology, August 2016
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2 tweeters

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Title
New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy
Published in
BMC Neurology, August 2016
DOI 10.1186/s12883-016-0651-y
Pubmed ID
Authors

Zhidai Liu, Penghui Zhang, Xiaoyan He, Shan Liu, Shi Tang, Rong Zhang, Xinbin Wang, Junjie Tan, Bin Peng, Li Jiang, Siqi Hong, Lin Zou

Abstract

Spinal muscular atrophy (SMA) is the most common autosomal recessive disease in children, and the diagnosis is complicated and difficult, especially at early stage. Early diagnosis of SMA is able to improve the outcome of SMA patients. In our study, Real-time PCR was developed to measure the gene mutation or deletion of key genes for SMA and to further analyse genotype-phenotype correlation. The multiple real-time PCR for detecting the mutations of survival of motor neuron (SMN), apoptosis inhibitory protein (NAIP) and general transcription factor IIH, polypeptide 2 gene (GTF2H2) was established and confirmed by DNA sequencing and multiplex ligation-dependent probe amplification (MLPA). The diagnosis and prognosis of 141 hospitalized children, 100 normal children and further 2000 cases of dry blood spot (DBS) samples were analysed by this multiple real-time PCR. The multiple real-time PCR was established and the accuracy of it to detect the mutations of SMN, NAIP and GTF2H2 was at least 98.8 % comparing with DNA sequencing and MLPA. Among 141 limb movement disorders children, 75 cases were SMA. 71 cases of SMA (94.67 %) were with SMN c.840 mutation, 9 cases (12 %) with NAIP deletion and 3 cases (4 %) with GTF2H2 deletion. The multiple real-time PCR was able to diagnose and predict the prognosis of SMA patients. Simultaneously, the real-time PCR was applied to detect trace DNA from DBS and able to make an early diagnosis of SMA. The clinical and molecular characteristics of SMA in Southwest of China were presented. Our work provides a novel way for detecting SMA in children by using real-time PCR and the potential usage in newborn screening for early diagnosis of SMA.

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 41 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 41 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 7 17%
Student > Master 7 17%
Researcher 4 10%
Student > Postgraduate 4 10%
Other 3 7%
Other 7 17%
Unknown 9 22%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 13 32%
Medicine and Dentistry 7 17%
Agricultural and Biological Sciences 4 10%
Neuroscience 3 7%
Social Sciences 1 2%
Other 3 7%
Unknown 10 24%

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 20 August 2016.
All research outputs
#4,146,566
of 8,250,529 outputs
Outputs from BMC Neurology
#700
of 1,243 outputs
Outputs of similar age
#128,438
of 253,934 outputs
Outputs of similar age from BMC Neurology
#48
of 68 outputs
Altmetric has tracked 8,250,529 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 1,243 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.4. This one is in the 37th percentile – i.e., 37% 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 253,934 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 45th percentile – i.e., 45% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 68 others from the same source and published within six weeks on either side of this one. This one is in the 25th percentile – i.e., 25% of its contemporaries scored the same or lower than it.