Five years of molecular diagnosis of Fragile X syndrome (1997-2001): A collaborative study reporting 95% of the activity in France

2004 ◽  
Vol 129A (3) ◽  
pp. 218-224 ◽  
Author(s):  
Val�rie Biancalana ◽  
Ch�rif Beldjord ◽  
Agn�s Taillandier ◽  
Sylvie Szpiro-Tapia ◽  
V�ronica Cusin ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Molecular Diagnosis ◽  
Fragile X ◽  
Collaborative Study

Molecular diagnosis of Fragile X syndrome

2009 ◽  
Vol 9 (1) ◽  
pp. 23-30 ◽  
Author(s):  
Christalena Sofocleous ◽  
Aggeliki Kolialexi ◽  
Ariadni Mavrou
Keyword(s):  
Fragile X Syndrome ◽  
Molecular Diagnosis ◽  
Fragile X

scholarly journals Simplified Molecular Diagnosis of Fragile X Syndrome by Fluorescent Methylation-Specific PCR and GeneScan Analysis

2006 ◽  
Vol 52 (8) ◽  
pp. 1492-1500 ◽  
Author(s):  
Youyou Zhou ◽  
Josephine MS Lum ◽  
Gare-Hoon Yeo ◽  
Jennifer Kiing ◽  
Stacey KH Tay ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Southern Blot ◽  
Molecular Diagnosis ◽  
Blot Analysis ◽  
Southern Blot Analysis ◽  
Fragile X ◽  
Molecular Diagnostic ◽  
Methylation Specific Pcr ◽  
Specific Pcr ◽  
Cgg Repeats

Abstract Background: Fragile X syndrome (FXS), the most common cause of inherited mental impairment, is most commonly related to hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5′ untranslated region of the FMR1 gene. Southern blot analysis is the most commonly used method for molecular diagnosis of FXS. We describe a simplified strategy based on fluorescent methylation-specific PCR (ms-PCR) and GeneScan™ analysis for molecular diagnosis of fragile X syndrome. Methods: We used sodium bisulfite treatment to selectively modify genomic DNA from fragile X and normal lymphoblastoid cell lines and from patients. We then performed ms-PCR amplification using fluorescently-labeled primers complementary to modified methylated or unmethylated DNA. Amplification products were resolved by capillary electrophoresis. FMR1 mutational status was determined by a combination of fluorescent peak sizes and patterns on the GeneScan electropherogram. Results: DNA samples from male and female persons with known NL, PM, and FM FMR1 CGG repeats were analyzed. Each FMR1 genotype produced a unique GeneScan electropherogram pattern, thus providing a way to identify the various disease states. The number of CGG repeats in all NL and PM alleles were determined accurately. Analysis by both the new assay and Southern blot of a family segregating with FXS showed complete concordance between both methods. Conclusions: This simplified molecular diagnostic test, based on fluorescent methylation-specific PCR, may be a suitable alternative or complement to Southern blot analysis for the diagnosis of FXS.

Molecular Diagnosis of Fragile X Syndrome Using Methylation Sensitive Techniques in a Cohort of Patients With Intellectual Disability

2014 ◽  
Vol 50 (4) ◽  
pp. 368-376 ◽  
Author(s):  
Adeel G. Chaudhary ◽  
Ibtessam R. Hussein ◽  
Adel Abuzenadah ◽  
Mamdouh Gari ◽  
Randa Bassiouni ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Molecular Diagnosis ◽  
Fragile X

scholarly journals Molecular Diagnosis of Fragile X Syndrome in Subjects with Intellectual Disability of Unknown Origin: Implications of Its Prevalence in Regional Pakistan

PLoS ONE ◽  
2015 ◽  
Vol 10 (4) ◽  
pp. e0122213 ◽  
Author(s):  
Madiha Kanwal ◽  
Saadia Alyas ◽  
Muhammad Afzal ◽  
Atika Mansoor ◽  
Rashda Abbasi ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Molecular Diagnosis ◽  
Fragile X ◽  
Unknown Origin

Apparently Unstable Normal FMR1 Alleles in Nine Developmentally Delayed Patients: Implications for Molecular Diagnosis of the Fragile X Syndrome

2000 ◽  
Vol 4 (3) ◽  
pp. 235-239 ◽  
Author(s):  
J. Tzountzouris ◽  
D. Kennedy ◽  
M. Skuterud ◽  
M. Connolly-Wilson ◽  
J.J.A. Holden ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Molecular Diagnosis ◽  
Fragile X ◽  
Developmentally Delayed

scholarly journals Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador

2021 ◽  
Vol 12 ◽  
Author(s):  
Juan Pozo-Palacios ◽  
Arianne Llamos-Paneque ◽  
Christian Rivas ◽  
Emily Onofre ◽  
Andrea López-Cáceres ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Molecular Diagnosis ◽  
Fragile X ◽  
Neurodevelopmental Disorder ◽  
Geographical Area ◽  
Cgg Repeat ◽  
Common Cause ◽  
Fragile X Mental Retardation

Fragile X syndrome (FXS) is the most common cause of hereditary intellectual disability and the second most common cause of intellectual disability of genetic etiology. This complex neurodevelopmental disorder is caused by an alteration in the CGG trinucleotide expansion in fragile X mental retardation gene 1 (FMR1) leading to gene silencing and the subsequent loss of its product: fragile X mental retardation protein 1 (FMRP). Molecular diagnosis is based on polymerase chain reaction (PCR) screening followed by Southern blotting (SB) or Triplet primer-PCR (TP-PCR) to determine the number of CGG repeats in the FMR1 gene. We performed, for the first time, screening in 247 Ecuadorian male individuals with clinical criteria to discard FXS. Analysis was carried out by the Genetics Service of the Hospital de Especialidades No. 1 de las Fuerzas Armadas (HE-1), Ecuador. The analysis was performed using endpoint PCR for CGG fragment expansion analysis of the FMR1 gene. Twenty-two affected males were identified as potentially carrying the full mutation in FMR1 and thus diagnosed with FXS that is 8.1% of the sample studied. The average age at diagnosis of the positive cases was 13 years of age, with most cases from the geographical area of Pichincha (63.63%). We confirmed the familial nature of the disease in four cases. The range of CGG variation in the population was 12–43 and followed a modal distribution of 27 repeats. Our results were similar to those reported in the literature; however, since it was not possible to differentiate between premutation and mutation cases, we can only establish a molecular screening approach to identify an expanded CGG repeat, which makes it necessary to generate national strategies to optimize molecular tests and establish proper protocols for the diagnosis, management, and follow-up of patients, families, and communities at risk of presenting FXS.

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