Fragile X Syndrome Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Adaptive, behavioral, and cognitive outcomes in individuals with fragile X syndrome with varying autism severity
In conclusion, autism symptom severity is associated with more adverse cognitive and adaptive skills and specific behaviors in FXS, whereas CYFIP1 mRNA expression levels may be a potential biomarker for severity of ASD in FXS.PMID:37724826 | DOI:10.1002/jdn.10299 (Source: International Journal of Developmental Neuroscience)
Source: International Journal of Developmental Neuroscience - September 19, 2023 Category: Neuroscience Authors: Ramkumar Aishworiya Ye Eun Tak Matthew Dominic Ponzini Hazel Maridith Barlahan Biag Maria Jimena Salcedo-Arellano Kyoungmi Kim Flora Tassone Andrea Schneider Angela John Thurman Leonard Abbeduto David Hessl Jamie Leah Randol Francois V Bolduc Sarah Lippe Source Type: research

Dysregulated COMT Expression in Fragile X Syndrome
AbstractTranscriptional and proteomics analyses in human fragile X syndrome (FXS) neurons identified markedly reduced expression ofCOMT, a key enzyme involved in the metabolism of catecholamines, including dopamine, epinephrine and norepinephrine. FXS is the most common genetic cause of intellectual disability and autism spectrum disorders.COMT encodes for catechol-o-methyltransferase and its association with neuropsychiatric disorders and cognitive function has been extensively studied. We observed a significantly reduced level ofCOMT in in FXS human neural progenitors and neurons, as well as hippocampal neurons fromFmr1 ...
Source: NeuroMolecular Medicine - September 8, 2023 Category: Neurology Source Type: research

Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family
Fragile X syndrome (FXS) [OMIM 300624] is a common X-linked inherited syndrome with an incidence only second to that of trisomy 21. More than 95% of fragile X syndrome is caused by reduced or absent fragile X intellectual disability protein 1 (FMRP) synthesis due to dynamic mutation expansion of the CGG triplet repeat in the 5′UTR and abnormal methylation of the FMR1 (fragile X messenger ribonucleoprotein 1) gene [OMIM 309550]. Less than 5% of cases are caused by abnormal function of the FMRP due to point mutations or deletions in the FMR1 gene. In a proband with clinical suspicion of FXS and no CGG duplication, we found...
Source: Frontiers in Genetics - September 7, 2023 Category: Genetics & Stem Cells Source Type: research

Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment
CONCLUSIONS: Carrier screening for CF, FXS, hemoglobinopathies and thalassemia, and SMA is effective at identifying at-risk couples, and test results may impact preconception and reproductive decision-making.The cost-effectiveness and budget impact of carrier screening programs are uncertain for Ontario. Over the short term, carrier screening programs are associated with higher costs, and also higher chances of detecting at-risk pregnancies compared with no screening. The 5-year budget impact of publicly funding universal carrier screening programs is larger than that of risk-based programs. However, accounting for treatme...
Source: Ontario Health Technology Assessment Series - August 28, 2023 Category: General Medicine Authors: Ontario Health (Quality) Source Type: research