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Genes 2016, 7(9), 59; doi:10.3390/genes7090059

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

Department of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland
Department of Medical Genetics, Children’s Memorial Health Institute, 20 Al. Dzieci Polskich Street, 04-730 Warsaw, Poland
Medgen, 27 Orzycka Street, 02-659 Warsaw, Poland
Department of Immunology, Biochemistry and Nutrition, Medical University of Warsaw, 61 Żwirki Wigury Street, 02-091 Warsaw, Poland
The Maria Grzegorzewska Academy of Special Education, 40 Szczęśliwicka Street, 02-353 Warsaw, Poland
Author to whom correspondence should be addressed.
Academic Editor: Mark Hirst
Received: 30 June 2016 / Revised: 3 August 2016 / Accepted: 19 August 2016 / Published: 2 September 2016
(This article belongs to the Special Issue Fragile X Syndrome)
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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. View Full-Text
Keywords: fragile X syndrome; FXTAS; FXPOI; FMR1; expansion; diagnostic; Southern blot; pre-screening PCR; TP-PCR fragile X syndrome; FXTAS; FXPOI; FMR1; expansion; diagnostic; Southern blot; pre-screening PCR; TP-PCR

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Rzońca, S.O.; Gos, M.; Szopa, D.; Sielska-Rotblum, D.; Landowska, A.; Szpecht-Potocka, A.; Milewski, M.; Czekajska, J.; Abramowicz, A.; Obersztyn, E.; Maciejko, D.; Mazurczak, T.; Bal, J. Towards a Better Molecular Diagnosis of FMR1-Related Disorders—A Multiyear Experience from a Reference Lab. Genes 2016, 7, 59.

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