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De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes

Overview of attention for article published in Molecular Cytogenetics, August 2015
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Title
De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes
Published in
Molecular Cytogenetics, August 2015
DOI 10.1186/s13039-015-0170-3
Pubmed ID
Authors

Orazio Palumbo, Rita Fischetto, Pietro Palumbo, Francesco Nicastro, Francesco Papadia, Leopoldo Zelante, Massimo Carella

Abstract

The CHL1 gene codes for a member of the L1 family of neural cell adhesion molecules. It is highly expressed in the central and peripheral nervous system playing an important role in the building and functioning on the brain. CHL1 proteins are also involved in axonal migration, synaptic formation and plasticity. In mice, functional studies showed that the haploinsufficiency of Chl1 gene in the developing brain results in cognitive deficits suggesting that the CHL1 gene at 3p26.3 is a candidate for an autosomal form of intellectual disability. Furthermore, in humans deletions of CHL1 have been described in patients with neurodevelopmental delay characterized by learning and language difficulties, seizures. Less is known about the potential effect of CHL1 overexpression, and microduplications of CHL1 have been rarely identified. In this report, we describe a male patient with a phenotype characterized by developmental delay, symptoms of hyperactivity, short attention span and speech delay. In addition, minor facial dysmorphic features have been observed. Chromosomal microarray analysis revealed a rare de novo 0.85 Mb microduplication on the short arm (p26.3) of chromosome 3, encompassing a single gene, CHL1. To the best of our knowledge, duplication of chromosome 3p26.3, including only the CHL1 gene, has been described in only one intellectually disabled girl with epilepsy. The duplication described here is the smallest reported so far. In addition, this is the first report describing a patient in which the CHL1 duplication is a de novo event. The clinical and molecular findings reported here are useful to provide further evidence that CHL1 is a dosage sensitive gene suggesting that not only the deletion but also its duplication can cause non-syndromic neurodevelopmental phenotypes.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 33 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 6 18%
Student > Ph. D. Student 5 15%
Researcher 4 12%
Student > Master 4 12%
Student > Doctoral Student 2 6%
Other 7 21%
Unknown 5 15%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 9 27%
Agricultural and Biological Sciences 5 15%
Medicine and Dentistry 4 12%
Nursing and Health Professions 2 6%
Neuroscience 2 6%
Other 6 18%
Unknown 5 15%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 19 August 2015.
All research outputs
#17,285,036
of 25,373,627 outputs
Outputs from Molecular Cytogenetics
#166
of 423 outputs
Outputs of similar age
#157,076
of 261,668 outputs
Outputs of similar age from Molecular Cytogenetics
#6
of 13 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 423 research outputs from this source. They receive a mean Attention Score of 2.4. This one is in the 46th percentile – i.e., 46% of its peers scored the same or lower than it.
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We're also able to compare this research output to 13 others from the same source and published within six weeks on either side of this one. This one is in the 38th percentile – i.e., 38% of its contemporaries scored the same or lower than it.