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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

Overview of attention for article published in Brain, July 2018
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (80th percentile)

Mentioned by

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12 X users
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2 Wikipedia pages

Citations

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86 Dimensions

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116 Mendeley
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3 CiteULike
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Title
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Published in
Brain, July 2018
DOI 10.1093/brain/awy173
Pubmed ID
Authors

Davor Lessel, Christina Gehbauer, Nuria C Bramswig, Caroline Schluth-Bolard, Sathish Venkataramanappa, Koen L I van Gassen, Maja Hempel, Tobias B Haack, Anja Baresic, Casie A Genetti, Mariana F A Funari, Ivana Lessel, Leonie Kuhlmann, Ruth Simon, Pentao Liu, Jonas Denecke, Alma Kuechler, Ineke de Kruijff, Moneef Shoukier, Monkol Lek, Thomas Mullen, Hermann-Josef Lüdecke, Antonio M Lerario, Robin Kobbe, Thorsten Krieger, Benedicte Demeer, Marine Lebrun, Boris Keren, Caroline Nava, Julien Buratti, Alexandra Afenjar, Marwan Shinawi, Maria J Guillen Sacoto, Julie Gauthier, Fadi F Hamdan, Anne-Marie Laberge, Philippe M Campeau, Raymond J Louie, Sara S Cathey, Immo Prinz, Alexander A L Jorge, Paulien A Terhal, Boris Lenhard, Dagmar Wieczorek, Tim M Strom, Pankaj B Agrawal, Stefan Britsch, Eva Tolosa, Christian Kubisch

Abstract

The transcription factor BCL11B is essential for development of the nervous and the immune system, and Bcl11b deficiency results in structural brain defects, reduced learning capacity, and impaired immune cell development in mice. However, the precise role of BCL11B in humans is largely unexplored, except for a single patient with a BCL11B missense mutation, affected by multisystem anomalies and profound immune deficiency. Using massively parallel sequencing we identified 13 patients bearing heterozygous germline alterations in BCL11B. Notably, all of them are affected by global developmental delay with speech impairment and intellectual disability; however, none displayed overt clinical signs of immune deficiency. Six frameshift mutations, two nonsense mutations, one missense mutation, and two chromosomal rearrangements resulting in diminished BCL11B expression, arose de novo. A further frameshift mutation was transmitted from a similarly affected mother. Interestingly, the most severely affected patient harbours a missense mutation within a zinc-finger domain of BCL11B, probably affecting the DNA-binding structural interface, similar to the recently published patient. Furthermore, the most C-terminally located premature termination codon mutation fails to rescue the progenitor cell proliferation defect in hippocampal slice cultures from Bcl11b-deficient mice. Concerning the role of BCL11B in the immune system, extensive immune phenotyping of our patients revealed alterations in the T cell compartment and lack of peripheral type 2 innate lymphoid cells (ILC2s), consistent with the findings described in Bcl11b-deficient mice. Unsupervised analysis of 102 T lymphocyte subpopulations showed that the patients clearly cluster apart from healthy children, further supporting the common aetiology of the disorder. Taken together, we show here that mutations leading either to BCL11B haploinsufficiency or to a truncated BCL11B protein clinically cause a non-syndromic neurodevelopmental delay. In addition, we suggest that missense mutations affecting specific sites within zinc-finger domains might result in distinct and more severe clinical outcomes.

X Demographics

X Demographics

The data shown below were collected from the profiles of 12 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 116 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 116 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 17 15%
Researcher 15 13%
Student > Ph. D. Student 11 9%
Student > Doctoral Student 10 9%
Other 7 6%
Other 24 21%
Unknown 32 28%
Readers by discipline Count As %
Medicine and Dentistry 22 19%
Biochemistry, Genetics and Molecular Biology 18 16%
Agricultural and Biological Sciences 7 6%
Immunology and Microbiology 7 6%
Neuroscience 6 5%
Other 21 18%
Unknown 35 30%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 10. 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 July 2021.
All research outputs
#3,098,113
of 23,094,276 outputs
Outputs from Brain
#2,872
of 7,161 outputs
Outputs of similar age
#63,344
of 326,642 outputs
Outputs of similar age from Brain
#56
of 79 outputs
Altmetric has tracked 23,094,276 research outputs across all sources so far. Compared to these this one has done well and is in the 86th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,161 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 25.9. This one has gotten more attention than average, scoring higher than 59% 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 326,642 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 80% of its contemporaries.
We're also able to compare this research output to 79 others from the same source and published within six weeks on either side of this one. This one is in the 29th percentile – i.e., 29% of its contemporaries scored the same or lower than it.