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Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

Overview of attention for article published in BMC Medical Genetics, February 2016
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  • Above-average Attention Score compared to outputs of the same age (61st percentile)

Mentioned by

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6 tweeters

Citations

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36 Dimensions

Readers on

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53 Mendeley
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Title
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature
Published in
BMC Medical Genetics, February 2016
DOI 10.1186/s12881-016-0276-4
Pubmed ID
Authors

Stephanie M. Luco, Daniela Pohl, Erick Sell, Justin D. Wagner, David A. Dyment, Hussein Daoud

Abstract

Chromosomal deletions encompassing DYRK1A have been associated with intellectual disability for several years. More recently, point mutations in DYRK1A have been shown to be responsible for a recognizable syndrome characterized by microcephaly, developmental delay and intellectual disability (ID) as well as characteristic facial features. Here we present 2 individuals with novel mutations in DYRK1A, and a review of the cases reported to date. Both individuals presented with the well-known characteristic features, as well as rarer anomalies seen in a minority of patients. Patient 1 presented shortly after birth with an enlarged cisterna magna, distal contractures, and distinctive facies that included bitemporal narrowing and deep set eyes. A de novo splice site mutation in DYRK1A [c.951 + 4_951 + 7delAGTA; p.Val222Aspfs*22] was identified by next generation sequencing. Patient 2 presented at 7 months of age with microcephaly and dysmorphic features. She went several years without a diagnosis until a de novo DYRK1A nonsense mutation [c.787C>T; p.(Arg263*)] was identified at age 12. These individuals, and the 52 cases reviewed from the literature, show the characteristic features of the DYRK1A-related syndrome including global developmental delay, ID, microcephaly, feeding difficulties, and the facial gestalt. Other common findings include seizures, vision defects, brain abnormalities and skeletal abnormalities of the hands and feet. Less common features include optic nerve defects, contractures, ataxia, and cardiac anomalies. DYRK1A testing should be considered in individuals with the facial features, intellectual disability and post-natal microcephaly. Once diagnosed with DYRK1A-related intellectual disability, a cardiac and ophthalmologic assessment would be recommended as would routine surveillance by a pediatrician for psychomotor development, growth, and feeding.

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

Geographical breakdown

Country Count As %
United Kingdom 1 2%
Unknown 52 98%

Demographic breakdown

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

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 15 May 2016.
All research outputs
#8,060,874
of 15,544,969 outputs
Outputs from BMC Medical Genetics
#262
of 949 outputs
Outputs of similar age
#101,298
of 268,461 outputs
Outputs of similar age from BMC Medical Genetics
#1
of 1 outputs
Altmetric has tracked 15,544,969 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 949 research outputs from this source. They receive a mean Attention Score of 3.2. This one has gotten more attention than average, scoring higher than 71% 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 268,461 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 61% 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