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Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex

Overview of attention for article published in Molecular Cytogenetics, February 2016
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About this Attention Score

  • Among the highest-scoring outputs from this source (#40 of 218)
  • Above-average Attention Score compared to outputs of the same age (58th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (60th percentile)

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3 tweeters

Citations

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8 Dimensions

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51 Mendeley
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Title
Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex
Published in
Molecular Cytogenetics, February 2016
DOI 10.1186/s13039-016-0221-4
Pubmed ID
Authors

Martina Rincic, Milan Rados, Zeljka Krsnik, Kristina Gotovac, Fran Borovecki, Thomas Liehr, Lukrecija Brecevic, Rincic, Martina, Rados, Milan, Krsnik, Zeljka, Gotovac, Kristina, Borovecki, Fran, Liehr, Thomas, Brecevic, Lukrecija

Abstract

Van der Woude syndrome (MIM: 119300, VWS) is a dominantly inherited and the most common orofacial clefting syndrome; it accounts for ~2 % of all cleft lip and palate cases. Intellectual disability (ID) is characterized by significant limitations, both in intellectual functioning (cognitive deficit) and in adaptive behavior as expressed in conceptual, social and practical adaptive skills. Karyotyping has been the first standard test for the detection of genetic imbalance in patients with ID for more than 35 years. Advances in genetic diagnosis have laid chromosomal microarrays (CMA) as a new standard and first first-line test for diagnosis of patients with ID, as well as other conditions, such as autism spectrum disorders or multiple congenital anomalies. The present case was initially studied due to unexplained cognitive deficit. Physical examination at the age of 18 years revealed cleft palate, lower lip pits and hypodontia, accompanied with other dysmorphic features and absence of speech. Brain MRI uncovered significantly reduced overall volume of gray matter and cortical gyrification. Banding cytogenetics revealed an indistinct intrachromosomal rearrangement in the long arm of one chromosome 1, and subsequent microarray analyses identified a 5.56 Mb deletion in 1q32.1-1q32.3, encompassing 52 genes; included were the entire IRF6 gene (whose mutations/deletions underlay VWS) and SRGAP2, a gene with an important role in neuronal migration during development of cerebral cortex. Besides, a duplication in 3q26.32 (1.9 Mb in size) comprising TBL1XR1 gene was identified. Multicolor banding for chromosome 1 and molecular cytogenetics applying a battery of locus-specific probes covering 1q32.1 to 1q44 characterized a four breakpoint-insertional-rearrangement-event, resulting in 1q32.1-1q32.3 deletion. Considering that the human-specific three-fold segmental duplication of SRGAP2 gene evolutionary corresponds to the beginning of neocortical expansion, we hypothesize that aberrations in SRGAP2 are strong candidates underlying specific brain abnormalities, namely reduced volume of grey matter and reduced gyrification.

Twitter Demographics

The data shown below were collected from the profiles of 3 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 51 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Germany 1 2%
Unknown 50 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 7 14%
Student > Master 7 14%
Student > Doctoral Student 6 12%
Student > Bachelor 6 12%
Researcher 5 10%
Other 11 22%
Unknown 9 18%
Readers by discipline Count As %
Medicine and Dentistry 10 20%
Neuroscience 9 18%
Agricultural and Biological Sciences 6 12%
Psychology 6 12%
Nursing and Health Professions 2 4%
Other 6 12%
Unknown 12 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 24 February 2016.
All research outputs
#2,970,124
of 7,269,211 outputs
Outputs from Molecular Cytogenetics
#40
of 218 outputs
Outputs of similar age
#111,671
of 284,355 outputs
Outputs of similar age from Molecular Cytogenetics
#2
of 5 outputs
Altmetric has tracked 7,269,211 research outputs across all sources so far. This one has received more attention than most of these and is in the 57th percentile.
So far Altmetric has tracked 218 research outputs from this source. They receive a mean Attention Score of 1.8. This one has done well, scoring higher than 77% 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 284,355 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 58% of its contemporaries.
We're also able to compare this research output to 5 others from the same source and published within six weeks on either side of this one. This one has scored higher than 3 of them.