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CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

Overview of attention for article published in BMC Medical Genomics, September 2015
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Title
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon
Published in
BMC Medical Genomics, September 2015
DOI 10.1186/s12881-015-0225-7
Pubmed ID
Authors

Elisa Pisaneschi, Pietro Sirleto, Francesca Romana Lepri, Silvia Genovese, Maria Lisa Dentici, Stefano Petrocchi, Adriano Angioni, Maria Cristina Digilio, Bruno Dallapiccola

Abstract

CHARGE syndrome is an autosomal dominant disorder, characterized by ocular Coloboma, congenital Heart defects, choanal Atresia, Retardation, Genital anomalies and Ear anomalies. Over 90 % of typical CHARGE patients are mutated in the CHD7 gene, 65 %-70 % of the cases for all typical and suspected cases combined. The gene encoding for a protein involved in chromatin organization. The mutational spectrum include nonsense, frameshift, splice site, and missense mutations. Large deletions and genomic rearrangements are rare. We report here on a 5.9 years old male of Moroccan origin displaying classic clinical features of CHARGE syndrome. Using CGH array and NGS analysis we detected a microdeletion (184 kb) involving the promoter region and exon 1 of CHD7 gene and the flanking RAB2 gene. The present observation suggests that deletion limited to the regulatory region of CHD7 is sufficient to cause the full blown CHARGE phenotype. Different size of deletions can result in different phenotypes, ranging from a milder to severe CHARGE syndrome; this is based on a combination of major and minor diagnostic characteristics, therefore to a more variable clinical features, likely due to the additive effect of other genetic imbalances. MLPA and CGH techniques should be considered in the diagnostic protocol of individuals with a clinical suspect of CHARGE syndrome.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 38 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 38 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 5 13%
Student > Bachelor 4 11%
Student > Doctoral Student 3 8%
Researcher 3 8%
Student > Master 3 8%
Other 5 13%
Unknown 15 39%
Readers by discipline Count As %
Medicine and Dentistry 9 24%
Biochemistry, Genetics and Molecular Biology 5 13%
Neuroscience 3 8%
Unspecified 1 3%
Agricultural and Biological Sciences 1 3%
Other 4 11%
Unknown 15 39%
Attention Score in Context

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 04 September 2015.
All research outputs
#16,582,931
of 25,387,480 outputs
Outputs from BMC Medical Genomics
#877
of 1,699 outputs
Outputs of similar age
#153,746
of 275,125 outputs
Outputs of similar age from BMC Medical Genomics
#28
of 46 outputs
Altmetric has tracked 25,387,480 research outputs across all sources so far. This one is in the 34th percentile – i.e., 34% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,699 research outputs from this source. They receive a mean Attention Score of 4.6. This one is in the 49th percentile – i.e., 49% of its peers scored the same or lower than it.
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 275,125 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 43rd percentile – i.e., 43% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 46 others from the same source and published within six weeks on either side of this one. This one is in the 41st percentile – i.e., 41% of its contemporaries scored the same or lower than it.