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Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands

Overview of attention for article published in European Journal of Human Genetics, June 2001
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37 Mendeley
Title
Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands
Published in
European Journal of Human Genetics, June 2001
DOI 10.1038/sj.ejhg.5200632
Pubmed ID
Authors

René Santer, Martina Kinner, Ulrike Steuerwald, Susanne Kjærgaard, Flemming Skovby, Henrik Simonsen, Wen-Ling Shaiu, Yuan-Tsong Chen, Reinhard Schneppenheim, Jürgen Schaub

Abstract

Glycogen storage disease type IIIA (GSD IIIA) is caused by mutations of the amyloglucosidase gene (AGL). For most populations, none of the AGL mutations described to date is particularly frequent. In this paper, we report that six children with GSD IIIA from the Faroe Islands were found to be homozygous for the novel nonsense mutation c.1222C>T (R408X) of the AGL gene. This mutation is easily detected by restriction enzyme digest with NsiI after mismatch PCR. Investigating five intragenic polymorphisms, we could show that this mutation was always associated with the same haplotype. The c.1222C>T mutation could be detected on two chromosomes of another 50 unselected GSD IIIA patients of other European or North American origin which means that this mutation plays a minor role worldwide. From the fact that we are currently aware of a total of 14 GSD IIIA cases in the Faroese population of 45 000, the observed prevalence is 1 : 3100. While the novel AGL mutation c.1222C>T was not detectable among 198 German newborns, nine out of 272 children from the Faroese neonatal screening program were found to be heterozygous for this mutation. Thus, the calculated prevalence is 1 : 3600 (95% CI 1:700-1:6400). We conclude that due to a founder effect, the Faroe Islands have the highest prevalence of GSD IIIA world-wide. The detection of the molecular defect has facilitated the diagnosis and has offered the opportunity for prenatal diagnosis in this patient group.

Mendeley readers

The data shown below were compiled from readership statistics for 37 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 37 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 6 16%
Student > Bachelor 6 16%
Student > Master 6 16%
Researcher 5 14%
Other 3 8%
Other 5 14%
Unknown 6 16%
Readers by discipline Count As %
Medicine and Dentistry 10 27%
Biochemistry, Genetics and Molecular Biology 6 16%
Agricultural and Biological Sciences 6 16%
Neuroscience 2 5%
Social Sciences 2 5%
Other 5 14%
Unknown 6 16%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 09 November 2016.
All research outputs
#3,548,467
of 12,346,729 outputs
Outputs from European Journal of Human Genetics
#1,063
of 2,344 outputs
Outputs of similar age
#91,238
of 286,462 outputs
Outputs of similar age from European Journal of Human Genetics
#12
of 20 outputs
Altmetric has tracked 12,346,729 research outputs across all sources so far. This one is in the 49th percentile – i.e., 49% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,344 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one is in the 33rd percentile – i.e., 33% 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 286,462 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 65% of its contemporaries.
We're also able to compare this research output to 20 others from the same source and published within six weeks on either side of this one. This one is in the 30th percentile – i.e., 30% of its contemporaries scored the same or lower than it.