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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.
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.
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 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.
