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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

Overview of attention for article published in Orphanet Journal of Rare Diseases, May 2016
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  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (76th percentile)
  • Good Attention Score compared to outputs of the same age and source (77th percentile)

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8 tweeters

Citations

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22 Dimensions

Readers on

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48 Mendeley
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Title
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
Published in
Orphanet Journal of Rare Diseases, May 2016
DOI 10.1186/s13023-016-0436-9
Pubmed ID
Authors

Hisham Megahed, Michaël Nicouleau, Giulia Barcia, Daniel Medina-Cano, Karine Siquier-Pernet, Christine Bole-Feysot, Mélanie Parisot, Cécile Masson, Patrick Nitschké, Marlène Rio, Nadia Bahi-Buisson, Isabelle Desguerre, Arnold Munnich, Nathalie Boddaert, Laurence Colleaux, Vincent Cantagrel

Abstract

Cerebellar atrophy and developmental delay are commonly associated features in large numbers of genetic diseases that frequently also include epilepsy. These defects are highly heterogeneous on both the genetic and clinical levels. Patients with these signs also typically present with non-specific neuroimaging results that can help prioritize further investigation but don't suggest a specific molecular diagnosis. To genetically explore a cohort of 18 Egyptian families with undiagnosed cerebellar atrophy identified on MRI, we sequenced probands and some non-affected family members via high-coverage whole exome sequencing (WES; >97 % of the exome covered at least by 30x). Patients were mostly from consanguineous families, either sporadic or multiplex. We analyzed WES data and filtered variants according to dominant and recessive inheritance models. We successfully identified disease-causing mutations in half of the families screened (9/18). These mutations are located in seven different genes, PLA2G6 being the gene most frequently mutated (n = 3). We also identified a recurrent de novo mutation in the KIF1A gene and a molybdenum cofactor deficiency caused by the loss of the start codon in the MOCS2A open-reading frame in a mildly affected subject. This study illustrates the necessity of screening for dominant mutations in WES data from consanguineous families. Our identification of a patient with a mild and improving phenotype carrying a previously characterized severe loss of function mutation also broadens the clinical spectrum associated with molybdenum cofactor deficiency.

Twitter Demographics

The data shown below were collected from the profiles of 8 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 48 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 48 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 11 23%
Student > Master 8 17%
Researcher 6 13%
Student > Bachelor 5 10%
Student > Doctoral Student 3 6%
Other 7 15%
Unknown 8 17%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 12 25%
Medicine and Dentistry 7 15%
Neuroscience 4 8%
Psychology 4 8%
Agricultural and Biological Sciences 3 6%
Other 9 19%
Unknown 9 19%

Attention Score in Context

This research output has an Altmetric Attention Score of 6. 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 03 June 2016.
All research outputs
#1,320,872
of 7,849,747 outputs
Outputs from Orphanet Journal of Rare Diseases
#178
of 1,091 outputs
Outputs of similar age
#62,298
of 267,652 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#13
of 58 outputs
Altmetric has tracked 7,849,747 research outputs across all sources so far. Compared to these this one has done well and is in the 83rd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,091 research outputs from this source. They receive a mean Attention Score of 4.8. This one has done well, scoring higher than 83% 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 267,652 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 76% of its contemporaries.
We're also able to compare this research output to 58 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.