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Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2013
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Title
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria
Published in
Orphanet Journal of Rare Diseases, January 2013
DOI 10.1186/1750-1172-8-13
Pubmed ID
Authors

Michela Barbaro, Maire Kotajärvi, Pauline Harper, Ylva Floderus

Abstract

Variegate porphyria (VP) is an autosomal dominantly inherited hepatic porphyria. The genetic defect in the PPOX gene leads to a partial defect of protoporphyrinogen oxidase, the penultimate enzyme of heme biosynthesis. Affected individuals can develop cutaneous symptoms in sun-exposed areas of the skin and/or neuropsychiatric acute attacks. The identification of the genetic defect in VP families is of crucial importance to detect the carrier status which allows counseling to prevent potentially life threatening neurovisceral attacks, usually triggered by factors such as certain drugs, alcohol or fasting.In a total of 31 Swedish VP families sequence analysis had identified a genetic defect in 26. In the remaining five families an extended genetic investigation was necessary. After the development of a synthetic probe set, MLPA analysis to screen for single exon deletions/duplications was performed.We describe here, for the first time, two partial deletions within the PPOX gene detected by MLPA analysis. One deletion affects exon 5 and 6 (c.339-197_616+320del1099) and has been identified in four families, most probably after a founder effect. The other extends from exon 5 to exon 9 (c.339-350_987+229del2609) and was found in one family. We show that both deletions are mediated by Alu repeats.Our findings emphasize the usefulness of MLPA analysis as a complement to PPOX gene sequencing analysis for comprehensive genetic diagnostics in patients with VP.

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Mendeley readers

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Geographical breakdown

Country Count As %
Unknown 8 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 4 50%
Student > Postgraduate 1 13%
Unknown 3 38%
Readers by discipline Count As %
Agricultural and Biological Sciences 3 38%
Medicine and Dentistry 2 25%
Unknown 3 38%

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 18 January 2013.
All research outputs
#3,076,642
of 4,507,280 outputs
Outputs from Orphanet Journal of Rare Diseases
#651
of 775 outputs
Outputs of similar age
#193,728
of 284,971 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#43
of 54 outputs
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