Evidence map›Paper›PMID 27598204›Full record

ArticleGenes2016

Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.

Sylwia Olimpia Rzońca, Monika Gos, Daniel Szopa, Danuta Sielska-Rotblum, Aleksandra Landowska, Agnieszka Szpecht-Potocka, Michał Milewski, Jolanta Czekajska, Anna Abramowicz, Ewa Obersztyn and 3 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact, top 93% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Molecular analysis ofPractical laboratory medicine · 2020
    Article
  3. Review
  4. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 3 institutions in 1 country.

Sylwia Olimpia RzońcaDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland. sylwia.rzonca@imid.med.pl.
Monika GosDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland. monika.gos@imid.med.pl.
Daniel SzopaDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland. daniel26a@wp.pl.
Danuta Sielska-RotblumDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland. d.sielska-rotblum@czd.pl.
Aleksandra LandowskaDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland. aleksandra.landowska@imid.med.pl.
Agnieszka Szpecht-PotockaDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland. aspotocka@o2.pl.
Michał MilewskiDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland. michal.milewski@imid.med.pl.
Jolanta CzekajskaDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland. jolanta.czekajska@imid.med.pl.
Anna AbramowiczDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland. anna.abramowicz@imid.med.pl.
Ewa ObersztynDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland. ewa.obersztyn@imid.med.pl.
Dorota MaciejkoDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland. dorota.maciejko@wum.edu.pl.
Tadeusz MazurczakDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland. t.mazurczak@wp.pl.
Jerzy BalDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland. jerzy.bal@imid.med.pl.
Children's Memorial Health Institute · PLMaria Grzegorzewska Academy of Special Education · PLMedical University of Warsaw · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The article summarizes over 20 years of experience of a reference lab in fragile X mental retardation 1 gene (FMR1) molecular analysis in the molecular diagnosis of fragile X spectrum disorders. This includes fragile X syndrome (FXS), fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS), which are three different clinical conditions with the same molecular background. They are all associated with an expansion of CGG repeats in the 5'UTR of FMR1 gene. Until 2016, the FMR1 gene was tested in 9185 individuals with the pre-screening PCR, supplemented with Southern blot analysis and/or Triplet Repeat Primed PCR based method. This approach allowed us to confirm the diagnosis of FXS, FXPOI FXTAS in 636/9131 (6.96%), 4/43 (9.3%) and 3/11 (27.3%) of the studied cases, respectively. Moreover, the FXS carrier status was established in 389 individuals. The technical aspect of the molecular analysis is very important in diagnosis of FXS-related disorders. The new methods were subsequently implemented in our laboratory. This allowed the significance of the Southern blot technique to be decreased until its complete withdrawal. Our experience points out the necessity of implementation of the GeneScan based methods to simplify the testing procedure as well as to obtain more information for the patient, especially if TP-PCR based methods are used.

Indexed as

diagnosticexpansionFMR1fragile X syndromeFXPOIFXTASpre-screening PCRSouthern blotTP-PCR

Identifiers

PMID27598204
PMCPMC5042390
OpenAlexW2508482193

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.