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Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy

Overview of attention for article published in Gene, May 2015
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Title
Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy
Published in
Gene, May 2015
DOI 10.1016/j.gene.2015.05.016
Pubmed ID
Authors

M.Y.F. Virgens, M. Siebert, H. Bock, M. Burin, R. Giugliani, M.L. Saraiva-Pereira

Abstract

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder inherited as an autosomal recessive trait. MLD is caused by the deficiency of arylsulfatase A (ARSA), a lysosomal enzyme that catalyzes the first step in the degradation of sulfated glycolipids, which are essential components of the myelin sheet. Notably, between 7% and 15% of healthy individuals show in vitro deficiency of ARSA, a condition called ARSA pseudodeficiency (ARSA-PD). To date, 151 ARSA-MLD mutations have been reported in the gene encoding ARSA (ARSA), among which IVS2+1G>A and P426L occur at high frequencies in most of the studied populations. The aim of this work was to identify ARSA mutant alleles in a cohort of 27 unrelated Brazilian MLD patients. The most frequent ARSA-MLD mutation, IVS2+1G>A, and the ARSA-PD polymorphisms, N350S and 1524+95A>G, were detected using real-time PCR, while the remaining mutations were detected using direct sequencing of ARSA. In concordance with previous reports, IVS2+1G>A and P426L were the most common ARSA-MLD mutations in our cohort of MLD patients, found at frequencies of 0.05 and 0.08, respectively. Interestingly, two mutations previously reported as rare, 103_110del8 and 1190_1191insC, were found at higher frequencies in our cohort of MLD patients, 0.08 and 0.06, respectively. Additionally, 11 other rare ARSA-MLD mutations were found at lower frequencies in our cohort of MLD patients. To our knowledge, this is the first systematic genotypic characterization of MLD patients from Latin America. This work highlights the genetic heterogeneity of MLD, and supports genotype-phenotype associations, which become more important as specific treatments are being developed for this devastating disorder.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 25 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 16%
Student > Bachelor 4 16%
Professor 3 12%
Student > Master 3 12%
Lecturer 2 8%
Other 7 28%
Unknown 2 8%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 9 36%
Medicine and Dentistry 6 24%
Agricultural and Biological Sciences 3 12%
Nursing and Health Professions 2 8%
Neuroscience 2 8%
Other 1 4%
Unknown 2 8%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 July 2023.
All research outputs
#8,262,445
of 25,374,917 outputs
Outputs from Gene
#3,179
of 10,914 outputs
Outputs of similar age
#92,793
of 278,747 outputs
Outputs of similar age from Gene
#24
of 144 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one has received more attention than most of these and is in the 66th percentile.
So far Altmetric has tracked 10,914 research outputs from this source. They receive a mean Attention Score of 3.8. This one has gotten more attention than average, scoring higher than 70% 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 278,747 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 144 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 80% of its contemporaries.