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The fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome.Expansion of the CGG repeating codon to such a degree results in a methylation of that portion of the DNA, effectively silencing the expression of the FMR1 protein.Mutation of the FMR1 gene leads to the transcriptional silencing of the fragile X-mental retardation protein, FMRP.
What else can I help you with?
What disease causes the bones to become fragile?
The disease that causes bones to become weak is called "Osteoporosis".
Is obesity a deficiency disease?
No obesity causes deficiency disease x
What are the symptoms of Fragile X?
Fragile X Syndrome (also known as FXS) is a life-altering condition that causes intellectual frailty. Those affected are prone to behavioral and learning challenges and may have physical imperfections.
Does fragile X get worse?
No, fragile x syndrome is not progressive
What are the symptoms of Fragile-X Syndrome?
Fragile X Syndrome (also known as FXS) is a life-altering condition that causes intellectual frailty. Those affected are prone to behavioral and learning challenges and may have physical imperfections.
Is fragile x a x linked disorder?
Yes, Fragile X syndrome is an X-linked genetic disorder that causes a range of developmental problems. It is caused by a mutation in the FMR1 gene located on the X chromosome. The condition is more commonly seen in males than in females because they have only one X chromosome.
What disease is caused by insertion mutation?
For example, some diseases caused by insertional mutations include: Fragile X Syndrome. Huntington's Disease. Myotonic dystrophy. Cystic fibrosis.
What are 2 human genetic diseases that have been linked to elongations of base triplet repeats?
Hunington's disease and Fragile X syndrome
What causes Fabry's disease?
Fabry's disease has an X-linked, recessive pattern of inheritance, meaning that the defective gene is carried on the X chromosome.
Where on the X chromosome does Fragile X take place?
Fragile X is a result of a mutation in the FMR1 gene on the X chromosome.
How many people have this disease fragile x syndrome?
1 in 4,000 males 1 in 6,000-8,000 females 1 in 100-250 mothers
What is the difference between Fragile X Syndrome and autism?
Fragile X Syndrome is a genetic condition caused by a mutation in the FMR1 gene, leading to intellectual disabilities and developmental challenges, while autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by difficulties in social interaction, communication, and repetitive behaviors. Although individuals with Fragile X may exhibit autistic traits, not all individuals with autism have Fragile X. The two conditions can co-occur, but they have different underlying causes and diagnostic criteria. Overall, Fragile X is a specific genetic disorder, whereas autism encompasses a broader range of developmental variations.
