[Fragile X syndrome and FMR1-dependent diseases - diagnostic scheme based on own experience .]

Aleksandra Landowska, Sylwia Rzońca, Jerzy Bal, Monika Gos

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In one paragraph

Review in Developmental period medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

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0citing papers in PubMed

–field-weighted citation impact, top 95% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

4 authors at 1 institution in 1 country.

Aleksandra LandowskaZakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa, Polska.

Sylwia RzońcaZakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa, Polska.

Jerzy BalZakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa, Polska.

Monika GosZakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa, Polska.

Instytut Matki i Dziecka · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The presence of dynamic mutation in the FMR1 gene localized on the X chromosome (Xq28) is the major cause of Fragile X syndrome. As this syndrome is quite frequently diagnosed in patients with intellectual disability and autism spectrum disorders, the genetic testing of the FMR1 gene is a routine procedure performed in these patients. Molecular methods based on the PCR technique are used commonly, as they allow to identify normal (up to 54 CGG repeats, including grey zone alleles - 45-54 CGG repeats), premutation (55-200 CGG repeats) and full mutation (>200 CGG repeats) alleles.The article presents the basic methods used in the molecular diagnosis of Fragile X syndrome and other FMR1-related disorders. The following methods are presented: a screening test with GeneScan analysis, TP-PCR based tests and methods used for methylation analysis. Their pros and cons, as well as the resulting interpretation are discussed. Moreover, there is a presentation of the molecular diagnostic scheme following European Molecular Genetics Quality Network guidelines used in the Department of Medical Genetics.

Indexed as

DNA Repeat ExpansionAtaxiaFemaleFragile X Messenger Ribonucleoprotein 1Fragile X SyndromeHumansMaleMutationPractice Guidelines as TopicPrimary Ovarian InsufficiencyTremorFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1dynamic mutationFMR1MS-MLPAPCRTP-PCR

Identifiers

PMID29641418

PMCPMC8522923

OpenAlexW3024382341

What OpenQuestion holds

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LicenceCC BY

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Registered trials

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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.