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Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome

Overview of attention for article published in Diagnostic Pathology, May 2018
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (61st percentile)

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1 tweeter
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2 Wikipedia pages

Citations

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4 Dimensions

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14 Mendeley
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Title
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
Published in
Diagnostic Pathology, May 2018
DOI 10.1186/s13000-018-0710-3
Pubmed ID
Authors

Latifa Chkioua, Hela Boudabous, Ibtissem Jaballi, Oussama Grissa, Hadhami Ben Turkia, Neji Tebib, Sandrine Laradi

Abstract

The mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease has three major clinical subtypes (severe Hurler syndrome, intermediate Hurler-Scheie syndrome and attenuated Scheie syndrome). We aim to identify the genetic variants in MPS I patients and to investigate the effect of the novel splice site mutation on splicing of IDUA- mRNA variability using bioinformatics tools. The IDUA mutations were determined in four MPS I patients from four families from Northern Tunisia, by amplifying and sequencing each of the IDUA exons and intron-exon junctions. One novel splice site IDUA mutation, c.1650 + 1G > T in intron 11 and two previously reported mutations, p.A75T and p.R555H, were detected. The patients in families 1 and 2 who have the Hurler phenotype were homozygotes for the novel splice site mutation c.1650 + 1G > T. The patient in family 3, who also had the Hurler phenotype, was a compound heterozygote for the novel splice site mutation c.1650 + 1G > T and for the previously reported missense mutation p.A75T. The patient in family 4 who had the Hurler-Scheie phenotype was a compound heterozygote for the novel splice site mutation c.1650 + 1G > T and for the previously reported missense mutation p.R555H. In addition, four known IDUA polymorphisms were identified. Bioinformatics tools allowed us to associate the variant c.1650 + 1G > T with the severe clinical phenotype of MPS I. This variant affects the essential nucleotide + 1 (G to T) of the donor splice site of IDUA intron 11. The G > T in intron 11 leads to wild type donor site broken with minus 19.97% value compared to normal value with 0%, hence the new splice site acceptor has plus 5.59%. The present findings indicate that the identified mutations facilitate the accurate carrier detection (genetic counseling of at-risk relatives) and the molecular prenatal diagnosis in Tunisia.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 14 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 29%
Student > Master 2 14%
Unspecified 1 7%
Student > Doctoral Student 1 7%
Lecturer > Senior Lecturer 1 7%
Other 2 14%
Unknown 3 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 8 57%
Unspecified 1 7%
Agricultural and Biological Sciences 1 7%
Medicine and Dentistry 1 7%
Unknown 3 21%

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 08 June 2021.
All research outputs
#6,704,799
of 21,364,317 outputs
Outputs from Diagnostic Pathology
#190
of 1,082 outputs
Outputs of similar age
#114,422
of 300,037 outputs
Outputs of similar age from Diagnostic Pathology
#1
of 1 outputs
Altmetric has tracked 21,364,317 research outputs across all sources so far. This one has received more attention than most of these and is in the 67th percentile.
So far Altmetric has tracked 1,082 research outputs from this source. They receive a mean Attention Score of 2.7. This one has done well, scoring higher than 81% 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 300,037 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 61% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them