Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome

2016 ◽  
Vol 59 (9) ◽  
pp. 459-462 ◽  
Author(s):  
P. Jiraanont ◽  
R.J. Hagerman ◽  
G. Neri ◽  
M. Zollino ◽  
M. Murdolo ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Fmr1 Gene ◽  
Germinal Mosaicism

Roles of ZF5 and CGGBP-20 transcription factors in regulating expression of human FMR1 gene responsible for fragile X-syndrome

2010 ◽  
Vol 4 (1) ◽  
pp. 54-62 ◽  
Author(s):  
P. V. Gulyy ◽  
S. V. Orlov ◽  
E. B. Dizhe ◽  
K. B. Kuteikin-Teplyakov ◽  
I. A. Ignatovich ◽  
...  
Keyword(s):  
Transcription Factors ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Fmr1 Gene

scholarly journals Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.

1996 ◽  
Vol 43 (2) ◽  
pp. 383-388
Author(s):  
M Milewski ◽  
M Zygulska ◽  
J Bal ◽  
W H Deelen ◽  
E Obersztyn ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Dna Sequence ◽  
Clinical Features ◽  
Fragile Site ◽  
Fragile X ◽  
Fmr1 Gene ◽  
Repeat Number ◽  
Full Mutation ◽  
Cgg Repeats ◽  
Large Expansion

The unstable DNA sequence in the FMR1 gene was analyzed in 85 individuals from Polish families with fragile X syndrome in order to characterize mutations responsible for the disease in Poland. In all affected individuals classified on the basis of clinical features and expression of the fragile site at X(q27.3) a large expansion of the unstable sequence (full mutation) was detected. About 5% (2 of 43) of individuals with full mutation did not express the fragile site. Among normal alleles, ranging in size from 20 to 41 CGG repeats, allele with 29 repeats was the most frequent (37%). Transmission of premutated and fully mutated alleles to the offspring was always associated with size increase. No change in repeat number was found when normal alleles were transmitted.

scholarly journals Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome

Genes ◽  
2016 ◽  
Vol 7 (8) ◽  
pp. 49 ◽  
Author(s):  
Elisabetta Tabolacci ◽  
Federica Palumbo ◽  
Veronica Nobile ◽  
Giovanni Neri
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Fmr1 Gene ◽  
Transcriptional Reactivation

scholarly journals Identification of microRNAs Associated With Human Fragile X Syndrome Using Next Generation Sequencing

2021 ◽  
Author(s):  
Maryam Sotoudeh Anvari ◽  
Hamed Vasei ◽  
Hossein Najmabadi ◽  
Reza Shervin Badv ◽  
Akram Gholipour ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Fragile X Syndrome ◽  
Deep Sequencing ◽  
Neurological Disorders ◽  
Fragile X ◽  
Expression Profiles ◽  
Fmr1 Gene ◽  
Blood Samples ◽  
Generation Sequencing ◽  
Potential Biomarkers

Abstract Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene which can lead to a loss or shortage of the FMR1 protein. This protein interacts with specific miRNAs, and a change can cause a range of neurological disorders. Therefore, miRNAs could act as a novel class of potential biomarkers for common CNS diseases. The aim of this study was to test this theory by exploring the expression profiles of various miRNAs in Iranian FXS patients using deep sequencing-based technologies, and validate the miRNAs affecting expression of the FMR1 gene. Blood samples were taken from 15 patients with FXS (9 males, 6 females) and 12 controls. 25 miRNAs were differentially expressed in individuals with FXS compared to controls. Levels of 9 miRNAs were found to be significantly changed (3 upregulated and 6 downregulated). In FXS patients, the levels of hsa-miR-532-5p, hsa-miR-652-3p and hsa-miR-4797-3p were significantly upregulated while levels of hsa-miR-191-5p, hsa-miR-181-5p, hsa-miR-26a-5p, hsa-miR-30e-5p, hsa-miR-186-5p, and hsa-miR-4797-5p exhibited significant downregulation; and these dysregulations were confirmed by RT‐qPCR. This study present altered miRNA expression in blood samples from FXS patients, which could be used for diagnostic, prognostic, and treatment purposes. Larger studies are required to confirm these preliminary results.

scholarly journals New Targeted Treatments for Fragile X Syndrome

2019 ◽  
Vol 15 (4) ◽  
pp. 251-258 ◽  
Author(s):  
Dragana Protic ◽  
Maria J. Salcedo-Arellano ◽  
Jeanne Barbara Dy ◽  
Laura A. Potter ◽  
Randi J. Hagerman
Keyword(s):  
Mental Retardation ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Behavioral Problems ◽  
Rna Binding ◽  
Fragile X ◽  
Symptomatic Treatment ◽  
Fmr1 Gene ◽  
Fragile X Mental Retardation ◽  
Cgg Repeats

Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability with prevalence rates estimated to be 1:5,000 in males and 1:8,000 in females. The increase of >200 Cytosine Guanine Guanine (CGG) repeats in the 5’ untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene results in transcriptional silencing on the FMR1 gene with a subsequent reduction or absence of fragile X mental retardation protein (FMRP), an RNA binding protein involved in the maturation and elimination of synapses. In addition to intellectual disability, common features of FXS are behavioral problems, autism, language deficits and atypical physical features. There are still no currently approved curative therapies for FXS, and clinical management continues to focus on symptomatic treatment of comorbid behaviors and psychiatric problems. Here we discuss several treatments that target the neurobiological pathway abnormal in FXS. These medications are clinically available at present and the data suggest that these medications can be helpful for those with FXS.

Fragile X syndrome: diagnosis by molecular characterization of FMR1 gene and clinical correlation

2018 ◽  
Vol 7 (2) ◽  
pp. 132
Author(s):  
RaniaM Samy ◽  
HodaM Abd El-Ghany ◽  
EmanA Ehssan ◽  
MenatallaK El-Deen ◽  
RashaA Al-Gamal ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Molecular Characterization ◽  
Fragile X ◽  
Fmr1 Gene ◽  
Clinical Correlation ◽  
Syndrome Diagnosis

A Novel Polymorphism in the FMR1 Gene: Implications for Clinical Testing of Fragile X Syndrome

2008 ◽  
Vol 132 (1) ◽  
pp. 95-98
Author(s):  
Bharat Thyagarajan ◽  
Matthew Bower ◽  
Michael Berger ◽  
Sidney Jones ◽  
Michelle Dolan ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Mental Retardation ◽  
Fragile X Syndrome ◽  
Southern Blot ◽  
Trinucleotide Repeat ◽  
Fragile X ◽  
Fmr1 Gene ◽  
Chain Reaction ◽  
Cgg Repeat ◽  
Polymerase Chain

Abstract Fragile X syndrome is the most common cause of inherited mental retardation among males. In most cases, the molecular basis of fragile X syndrome is the expansion and subsequent methylation of a CGG trinucleotide repeat in the 5′ untranslated region of the fragile X mental retardation 1 (FMR1) gene. Laboratory diagnosis usually relies on a combination of Southern blot and polymerase chain reaction analyses. In this case report we describe an unusual Southern blot result in a patient who presented with developmental delay and had a normal CGG repeat number by polymerase chain reaction analysis. Further investigation revealed a novel G3310C transversion in the FMR1 gene resulting in a new recognition site for the BssHII restriction enzyme. This novel restriction site could potentially mimic a partial deletion of the FMR1 gene on Southern blot analysis and thus represents a possible pitfall in the diagnosis of fragile X syndrome.

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