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Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction

Overview of attention for article published in Genes, June 2018
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Title
Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction
Published in
Genes, June 2018
DOI 10.3390/genes9060287
Pubmed ID
Authors

Yael Prawer, Matthew Hunter, Sara Cronin, Ling Ling, Solange Aliaga Vera, Michael Fahey, Nikki Gelfand, Ralph Oertel, Essra Bartlett, David Francis, David Godler

Abstract

Fragile X syndrome (FXS) is usually associated with a CGG repeat expansion >200 repeats within the FMR1 gene, known as a full mutation (FM). FM alleles produce abnormal methylation of the FMR1 promoter with reduction or silencing of FMR1 gene expression. Furthermore, premutation (PM: 55⁻199 CGGs) and full mutation alleles usually expand in size when maternally transmitted to progeny. This study describes a PM allele carried by the mother decreasing to a normal sized allele in a male from a dichorionic diamniotic (DCDA) twin pregnancy, with the female twin inheriting FM (200⁻790 CGGs), PM (130 CGGs) and normal-sized (39 CGGs) alleles. Further evidence of instability of the maternal PM allele was shown by a male proband (older brother) mosaic for PM (CGG 78 and 150 CGGs) and FM (200⁻813 CGGs), and a high level of FMR1 promoter methylation, between 50 and 70%, in multiple tissues. The fully-retracted, normal-sized allele was identified by PCR CGG sizing in the male twin, with no evidence of a FM allele identified using Southern blot analysis in multiple tissues collected postnatally and prenatally. Consistent with this, prenatal PCR sizing (35 CGGs) showed inconsistent inheritance of the maternal normal allele (30 CGGs), with single-nucleotide polymorphism (SNP) linkage analysis confirming that the abnormal FMR1 chromosome had been inherited from the mother's PM chromosome. Importantly, the male twin showed no significant hypermethylation of the FMR1 promoter in all pre and postnatal tissues tested, as well as normal levels of FMR1 mRNA in blood. In summary, this report demonstrates the first postnatal follow up of a prenatal case in which FMR1 mRNA levels were approaching normal, with normal levels of FMR1 promoter methylation and normal CGG size in multiple pre and postnatally collected tissues.

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X Demographics

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Mendeley readers

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 2 14%
Librarian 1 7%
Other 1 7%
Student > Bachelor 1 7%
Student > Doctoral Student 1 7%
Other 2 14%
Unknown 6 43%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 4 29%
Psychology 2 14%
Arts and Humanities 1 7%
Medicine and Dentistry 1 7%
Unknown 6 43%
Attention Score in Context

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 11 June 2018.
All research outputs
#18,639,173
of 23,090,520 outputs
Outputs from Genes
#4,045
of 5,580 outputs
Outputs of similar age
#254,593
of 329,367 outputs
Outputs of similar age from Genes
#109
of 129 outputs
Altmetric has tracked 23,090,520 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 5,580 research outputs from this source. They receive a mean Attention Score of 4.6. This one is in the 14th percentile – i.e., 14% of its peers scored the same or lower than it.
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We're also able to compare this research output to 129 others from the same source and published within six weeks on either side of this one. This one is in the 3rd percentile – i.e., 3% of its contemporaries scored the same or lower than it.