<i>FMR1</i>Protein Expression in Blood Smears for Fragile X Syndrome Diagnosis in a Mexican Population Sample

Romero-Espinoza, Pavel; Rosales-Reynoso, Mónica Alejandra; Willemsen, Rob; Barros‐Núñez, Patricio

doi:10.1089/gtmb.2009.0172

Cited by 3 publications

(2 citation statements)

References 32 publications

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“…In this population, the authors reported very low levels of FMRP with an average percentage of stained lymphocytes of 8.6 per child, and no autistic behavior/FMRP interaction. The assay was also employed to study FMRP expression in a Mexican cohort comprising FXS patients and control individuals [56]. The authors reported that the sensitivity and specificity of the assay and the positive and negative predictive values were 100%.…”

Section: Immunohistochemistrymentioning

confidence: 99%

Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)

LaFauci¹,

Adayev²,

Kascsak³

et al. 2016

Genes

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The final product of FMR1 gene transcription, Fragile X Mental Retardation Protein 1 (FMRP), is an RNA binding protein that acts as a repressor of translation. FMRP is expressed in several tissues and plays important roles in neurogenesis, synaptic plasticity, and ovarian functions and has been implicated in a number of neuropsychological disorders. The loss of FMRP causes Fragile X Syndrome (FXS). In most cases, FXS is due to large expansions of a CGG repeat in FMR1—normally containing 6–54 repeats—to over 200 CGGs and identified as full mutation (FM). Hypermethylation of the repeat induces FMR1 silencing and lack of FMRP expression in FM male. Mosaic FM males express low levels of FMRP and present a less severe phenotype that inversely correlates with FMRP levels. Carriers of pre-mutations (55–200 CGG) show increased mRNA, and normal to reduced FMRP levels. Alternative splicing of FMR1 mRNA results in 24 FMRP predicted isoforms whose expression are tissues and developmentally regulated. Here, we summarize the approaches used by several laboratories including our own to (a) detect and estimate the amount of FMRP in different tissues, developmental stages and various pathologies; and (b) to accurately quantifying FMRP for a direct diagnosis of FXS in adults and newborns.

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Section: Immunohistochemistrymentioning

confidence: 99%

Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)

LaFauci¹,

Adayev²,

Kascsak³

et al. 2016

Genes

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“…In recent years, antenatal diagnosis of FXS plays essential role in prevention of FXS (12)(13)(14). Study has found that single-tube polymerase chain reaction (PCR) panel of highly polymorphic markers is an efficient method for preimplantation genetic diagnosis of FXS (15).…”

Section: Introductionmentioning

confidence: 99%

Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR

Miao¹,

Liu²,

Li³

et al. 2018

Exp Ther Med

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Abstract. Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the leading monogenic cause of autism spectrum disorder. It has previously been demonstrated that prenatal genetic diagnosis is efficient for the diagnosis of FXS. The present study investigated the diagnostic effects of nested polymerase chain reaction (PCR) for fragile X mental retardation 1 (FMR1) and expanded CGG repeats. It was demonstrated that the nested PCR assay rapidly measured the multi-copies of the FMR1 gene in individual samples. The nested PCR assay detected normal CGG repeat lengths and expanded CGG repeat lengths with a low occurrence of false positives. In addition, the nested PCR assay resulted in increased sensitivity and specificity for patients with FXS. Furthermore, the nested PCR assay identified the mutation and generated conclusive cases for FXS, indicating that this assay is beneficial for the diagnosis of FXS patients. In conclusion, these outcomes indicate that nested PCR assay is a reliable and easier method for diagnosis of FXS, which may be used for the diagnosis of FXS patients. IntroductionFragile X syndrome (FXS) is one of the most common monogenic diseases that can lead to autism spectrum disorder and intellectual disability (1). Genetic diagnosis shows that FXS is an X-linked genetic disorder that is characterized by behavioral problems and specific physical dysmorphisms (2). Child patients with FXS have ritualistic behaviors and social deficits and study has provided for early recognition and diagnosis for the children patients (3). Previous study indicated that FXS included the clinical manifestations, such as language delay, intellectual dysfunction, behavioral and social problems, and other physical malformations (4). In recent years, although various medical treatments have been applied for patients with FXS, a spectrum of medical problems are commonly experienced by people with FXS, such as otitis media, seizures, and gastrointestinal problems (5). Therefore, the efficacy of prenatal genetic diagnosis for FXS plays essential role for prenatal diseases testing.Currently, FXS is regarded as a monogenic disease caused by expansion of a trinucleotide repeat in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene (6). The FMR1 gene is a microsatellite locus that contains <55 CGG repeats in its 5'-untranslated region on Xq27.3 (7). Bioinformatics has indicated that CGG repeat (>200 CGG repeats) in its 5'-untranslated region is associated with fragile X tremor and ataxia syndrome (FXTAS) by silencing FMR1 gene and resulting in FXS (8,9). The abnormal CGG expansion results in methylation and transcriptional silencing of the FMR1 gene, which subsequently leads to a reduction or loss of fragile X mental retardation 1 protein (FMRP) (10). Additionally, previous study has indicated that methylation of the FMR1 gene exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2) affects X-chromosome inactivation (XCI) in FXS full mutation (1...

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Fragile X protein expression is linked to visual functions in healthy male volunteers

Kéri

Benedek

2011

Neuroscience

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FMR1Protein Expression in Blood Smears for Fragile X Syndrome Diagnosis in a Mexican Population Sample

Cited by 3 publications

References 32 publications

Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)

Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)

Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR

Fragile X protein expression is linked to visual functions in healthy male volunteers

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