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Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

Overview of attention for article published in European Journal of Human Genetics, June 2012
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1 tweeter

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30 Mendeley
Title
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome
Published in
European Journal of Human Genetics, June 2012
DOI 10.1038/ejhg.2012.117
Pubmed ID
Authors

Annette F Baas, Michael Gabbett, Milan Rimac, Minttu Kansikas, Martine Raphael, Rutger AJ Nievelstein, Wayne Nicholls, Johan Offerhaus, Danielle Bodmer, Annekatrin Wernstedt, Birgit Krabichler, Ulrich Strasser, Minna Nyström, Johannes Zschocke, Stephen P Robertson, Mieke M van Haelst, Katharina Wimmer

Abstract

Constitutional mismatch repair deficiency (CMMR-D) syndrome is a rare inherited childhood cancer predisposition caused by biallelic germline mutations in one of the four mismatch repair (MMR)-genes, MLH1, MSH2, MSH6 or PMS2. Owing to a wide tumor spectrum, the lack of specific clinical features and the overlap with other cancer predisposing syndromes, diagnosis of CMMR-D is often delayed in pediatric cancer patients. Here, we report of three new CMMR-D patients all of whom developed more than one malignancy. The common finding in these three patients is agenesis of the corpus callosum (ACC). Gray matter heterotopia is present in two patients. One of the 57 previously reported CMMR-D patients with brain tumors (therefore all likely had cerebral imaging) also had ACC. With the present report the prevalence of cerebral malformations is at least 4/60 (6.6%). This number is well above the population birth prevalence of 0.09-0.36 live births with these cerebral malformations, suggesting that ACC and heterotopia are features of CMMR-D. Therefore, the presence of cerebral malformations in pediatric cancer patients should alert to the possible diagnosis of CMMR-D. ACC and gray matter heterotopia are the first congenital malformations described to occur at higher frequency in CMMR-D patients than in the general population. Further systematic evaluations of CMMR-D patients are needed to identify possible other malformations associated with this syndrome.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter 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 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 30 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 6 20%
Unspecified 5 17%
Researcher 4 13%
Student > Master 3 10%
Student > Doctoral Student 3 10%
Other 9 30%
Readers by discipline Count As %
Medicine and Dentistry 11 37%
Agricultural and Biological Sciences 7 23%
Unspecified 5 17%
Neuroscience 3 10%
Biochemistry, Genetics and Molecular Biology 3 10%
Other 1 3%

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 13 June 2012.
All research outputs
#3,000,053
of 6,365,565 outputs
Outputs from European Journal of Human Genetics
#1,244
of 1,623 outputs
Outputs of similar age
#39,116
of 83,458 outputs
Outputs of similar age from European Journal of Human Genetics
#22
of 52 outputs
Altmetric has tracked 6,365,565 research outputs across all sources so far. This one is in the 29th percentile – i.e., 29% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,623 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.5. This one is in the 14th percentile – i.e., 14% 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 83,458 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 39th percentile – i.e., 39% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 52 others from the same source and published within six weeks on either side of this one. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.