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Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction

Overview of attention for article published in BMC Medical Genomics, May 2018
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (51st percentile)

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2 tweeters
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2 Facebook pages

Citations

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49 Mendeley
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Title
Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction
Published in
BMC Medical Genomics, May 2018
DOI 10.1186/s12920-018-0362-x
Pubmed ID
Authors

Elysa Jill Marco, Anne Brandes Aitken, Vishnu Prakas Nair, Gilberto da Gente, Molly Rae Gerdes, Leyla Bologlu, Sean Thomas, Elliott H. Sherr

Abstract

In children with sensory processing dysfunction (SPD), who do not meet criteria for autism spectrum disorder (ASD) or intellectual disability, the contribution of de novo pathogenic mutation in neurodevelopmental genes is unknown and in need of investigation. We hypothesize that children with SPD may have pathogenic variants in genes that have been identified as causing other neurodevelopmental disorders including ASD. This genetic information may provide important insight into the etiology of sensory processing dysfunction and guide clinical evaluation and care. Eleven community-recruited trios (children with isolated SPD and both biological parents) underwent WES to identify candidate de novo variants and inherited rare single nucleotide variants (rSNV) in genes previously associated with ASD. Gene enrichment in these children and their parents for transmitted and non-transmitted mutation burden was calculated. A comparison analysis to assess for enriched rSNV burden was then performed in 2377 children with ASD and their families from the Simons Simplex Collection. Of the children with SPD, 2/11 (18%), were identified as having a de novo loss of function or missense mutation in genes previously reported as causative for neurodevelopmental disorders (MBD5 and FMN2). We also found that the parents of children with SPD have significant enrichment of pathogenic rSNV burden in high-risk ASD candidate genes that are inherited by their affected children. Using the same approach, we confirmed enrichment of rSNV burden in a large cohort of children with autism and their parents but not unaffected siblings. Our findings suggest that SPD, like autism, has a genetic basis that includes both de novo single gene mutations as well as an accumulated burden of rare inherited variants from their parents.

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

Geographical breakdown

Country Count As %
Unknown 49 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 11 22%
Student > Doctoral Student 7 14%
Researcher 5 10%
Student > Bachelor 5 10%
Student > Ph. D. Student 5 10%
Other 11 22%
Unknown 5 10%
Readers by discipline Count As %
Psychology 11 22%
Biochemistry, Genetics and Molecular Biology 7 14%
Neuroscience 6 12%
Nursing and Health Professions 5 10%
Medicine and Dentistry 5 10%
Other 8 16%
Unknown 7 14%

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 15 August 2018.
All research outputs
#8,769,635
of 15,922,938 outputs
Outputs from BMC Medical Genomics
#376
of 839 outputs
Outputs of similar age
#131,953
of 282,066 outputs
Outputs of similar age from BMC Medical Genomics
#1
of 1 outputs
Altmetric has tracked 15,922,938 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 839 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 52% 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 282,066 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 51% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them