The fragile X syndrome: no evidence for any recent mutations
As reproductive fitness of fra (X) patients is severely compromised, a high mutation rate has been proposed to explain the high prevalence. However, we have been unable to show any new mutation …
The Spectrum of Fragile X Disorders - The New England Journal of …
Jul 16, 2025 · Fragile X disorders include two distinct conditions: fragile X syndrome (the most common single-gene cause of developmental delay and autism) and an entirely separate group of premutation...
Therapeutic strategies for fragile X syndrome and implications for ...
Jul 17, 2025 · Gene-silencing disorders, of which fragile X syndrome (FXS) is the most prevalent, are diseases caused by a blockade of gene transcription, usually due to DNA hypermethylation.
The fragile X syndrome: no evidence for any recent mutations.
As reproductive fitness of fra (X) patients is severely compromised, a high mutation rate has been proposed to explain the high prevalence. However, we have been unable to show any new mutation …
Systematic Review: Fragile X Syndrome Across the Lifespan with a …
A normal life span is expected in FXS with no life-threatening health concerns directly related to the syndrome itself. Adults with FXS experience a range of outcomes depending on the severity of …
Fragile X syndrome - Wikipedia
Fragile X syndrome is the most common genetic cause of autism. [7][13][25] This finding has resulted in medical screening for FMR1 mutation in individuals who present with autism. [13] Of those with …
The fragile X syndrome: no evidence for any recent mutations
Mar 1, 1993 · By haplotype analysis of microsatellite markers which flank the fragile X unstable element, we have uncovered evidence of founder chromosomes of the fragile X 'mutation'.
Non-CGG trinucleotide repeat expansions as pathogenic genetic mutations …
Oct 27, 2025 · Conclusion: Our critical review presents several non-CGG repeat mutations in FMR1 gene that are directly involved in the phenotypes found in Fragile X Syndrome, indicating that genetic …
Medscape Now! Understanding Fragile X Syndrome: Genetics, Clinical ...
2 days ago · Medscape Now! Understanding Fragile X Syndrome: Genetics, Clinical Features, and Management Can early recognition of fragile X syndrome change the lifelong outcomes for patients …
The fragile X syndrome: no evidence for any recent mutations
Fragile X (fra (X)) syndrome, the most common form of familial mental retardation, is caused by heritable unstable DNA composed of CGG repeats. As reproductive fitness of fra (X) patients is severely …