Fragile X Syndrome

Frequently Asked Questions

2010-05-15T04:02:00.000-07:00

Did I do anything to cause fragile X syndrome?
No. There is nothing you did before or during the pregnancy or after your child was born to cause fragile X syndrome. Fragile X syndrome is genetic which means it is caused by a change in a gene, in this case, the FMR1 gene. The change causes the gene not to work the way it should, leading to the problems seen in fragile X syndrome.

Because fragile X syndrome is genetic, it can be passed on and you are at risk for having another child with fragile X syndrome. It is important to know that you have no control over whether this change gets passed on to your child or not. In addition, other family members may also be at risk of having children with fragile X syndrome, so it is important to inform them of your child's diagnosis.

What does cause fragile X syndrome?
Explaining how fragile X happens is not very easy simply because of the way it is inherited. To start, let's talk broadly about genes and chromosomes. Genes are the instructions that tell our bodies how to work and are made up of DNA. We inherit two copies of all of our genes: one copy from our mother and one copy from our father. The DNA is packed into larger structures called chromosomes, and each chromosome contains hundreds to thousands of genes. Most people have 23 pairs of chromosomes, for a total of 46 chromosomes. The first 22 pairs are the same in males and females and are called the autosomes. The 23rd pair, called the sex chromosomes, are different in males and females. Females have two "X" chromosomes, and males have one "X" and one "Y" chromosome.

Fragile X is caused by a change in the FMR1 gene on the X chromosome that causes it not to work properly. Everyone has 6-10 genes that don't work the way they should, but this generally does not cause a problem. However, the change in the FMR1 gene does make a difference. This change (also called a mutation) in the FMR1 gene is complex and occurs over many generations.

The FMR1 gene contains a section of repetitive DNA that in most of the population is only 10-40 repeats long. In those with fragile X syndrome, this repeated region has expanded to over 200 repeats. When a repeat length is greater than 200, it is referred to as a full mutation or expansion. At this size, the FMR1 gene cannot function and the FMR1 protein cannot be produced. It is the inability of cells to make this protein that is responsible for fragile X syndrome.

In general, every person gets two copies of every gene. This is a little bit different for the FMR1 gene because it is on the "X" chromosome. Because males have only one "X" chromosome, they have only one copy of the FMR1 gene. If they have a full mutation, their one copy of the FMR1 gene is not working, and one sees the signs of fragile X syndrome. Because females have two "X" chromosomes and 2 copies of the FMR1 gene, if a girl inherits a full mutation, the other copy of the gene is usually working, so girls with a full mutation are still able to make FMR1 protein. This is why girls usually have fewer signs of fragile X than boys do.

In general, we expect to see the full mutation in every cell of a person with fragile X syndrome. Sometimes, however, an individual with fragile X syndrome can have what is called mosaicism. There are two kinds of mosaicism in fragile X syndrome: repeat size mosaicism and methylation mosaicism. In repeat size mosaicism, an individual has some cells that have a full mutation and some cells that have a premutation. In methylation mosaicism, all the cells have a full mutation, but the methylation pattern may not be the same in all cells. Some research studies have shown that individuals with repeat size or methylation mosaicism may be less affected than those who do not have mosaicism.

What is methylation?
Methylation is a process in which a chemical group, called a methyl group, gets added to the DNA. When enough methyl groups are added to the DNA, the gene gets turned off. When methyl groups are removed, the gene gets turned on. This is a normal process and many of our genes are controlled by methylation. However, in fragile X syndrome, the methylation of the FMR1 gene turns the gene off when it should be turned on. When FMR1 is turned off, its protein is not made, and you see the features of fragile X syndrome.

When someone with fragile X syndrome has methylation mosaicism, not all cells will have the FMR1 gene turned off by methylation. Some cells may have it partially turned off, and some cells may have the FMR1 gene turned on.

I heard only boys have fragile X syndrome. Why does my daughter have it also?
Girls can also have fragile X syndrome even though they have two "X" chromosomes. The reason is that they have a full expansion on one chromosome and a normal repeat section (in most cases) on the other chromosome. The copy with the full expansion is not making any FMR1 protein, while the other copy (the normal repeat section) is making protein. Although some protein is being made, it may not be enough, so we can see characteristics of fragile X syndrome. However, because some protein is being made, girls with fragile X syndrome are generally less affected than boys.

Is there a cure?
At this time, there is no cure for fragile X syndrome. Treatment for fragile X syndrome is provided through therapies such as special education, speech and language therapy, and occupational therapy. Medications may be helpful in managing hyperactivity, short attention span, and other behavioral or emotional problems. In order to determine the best course of action for your child, a comprehensive evaluation is recommended.

Source: www.childrenshospital.org

Fragile X Syndrome Facebook

2010-05-15T03:53:00.000-07:00

There is very nice application at Facebook social media site. if you want you can add this application to your facebook profile for more information. Go to there:

Fragile X Syndrome & Autism

what is pre-mutation ?

2010-04-14T23:58:00.001-07:00

Pre-mutation: A version of the FMR1 gene with 55 to 199 CGG repeats at the beginning of the gene. A pre-mutation does not cause Fragile X but it can expand into a full-sized mutation in the egg or during a child's embryonic development.

what is PCR/Polymerase chain reaction ?

2010-04-14T23:57:00.001-07:00

PCR/Polymerase chain reaction: A method to increase or amplify specific sequences of DNA. This method can be used to detect the presence of changes in DNA sequence that can be the cause of genetic disorders.

what is FMR1 ?

2010-04-14T23:56:00.002-07:00

FMR1: A gene on the X chromosome that encodes instructions for building the Fragile X Mental Retardation Protein (FMRP). A mutation in this gene causes the Fragile X syndrome.

what is CGG repeat ?

2010-04-14T23:56:00.000-07:00

CGG repeat: A string of 3 bases that are usually repeated seven to 55 times in a row at the beginning of the FMR1 gene. The inactivation of this gene causes Fragile X. In people with Fragile X, the CGC triplet is repeated 200 times or more.

fragile x syndrome glossary

2010-04-14T23:40:00.000-07:00

Fragile x syndrome glossary, terms and keywords:

Adenine: One of the four bases that make up DNA. Abbreviated with an 'A'.
Carrier: A person that carries a gene that causes a disorder, but does not show symptoms.
Chromosome: Chromosomes are packages of DNA found in the nucleus of cells. Humans have 46 chromosomes.

Cytosine: One of the four bases that make up DNA. Abbreviated with a 'C'.

DNA: Short for deoxyribonucleic acid, DNA is the molecule that carries genetic information.

Full mutation: A mutation in the FMR1 gene with 200 or more CGG repeats.

FMRP: A protein involved in the maturation of neurons in the brain. People with Fragile X lack this protein.

Gene: A portion of DNA that contains instructions for making a protein.

Genotype: The genetic composition of a person. Usually used when considering one gene or chromosome (eg males have a XY genotype, females have a XX).

Guanine: One of the four bases that make up DNA. Abbreviated with a 'G'.

Methyl group: A small molecule that turns off the FMR1 gene in people with Fragile X.

Mutation: A change in the sequence of a gene.

PCR test: A genetic test used to detect pre-mutations in a person's DNA.

Punnett square: A method of showing the potential offspring of two parents.

Sex chromosome: Chromosomes (X and Y) that determine an individual's gender.

Southern blot test: A genetic test that detects full mutations in a person's DNA.

Thymine: One of the four bases that make up DNA. Abbreviated with a 'T'.

Transmitting male: With reference to Fragile X, a transmitting male has a pre-mutation that he has passed to his daughter.

X-inactivation: A process in female mammals in which one of the two X chromosomes is "turned off."

fragile x syndrome and autism

2010-03-07T04:25:00.000-08:00

Do You Know What Fragile X Is?
this is good video about fragile x
difference and ties between fragile x syndrome autism..

Privacy Policy

2010-01-17T06:52:00.000-08:00

Privacy Policy for fragilexsyndrome.blogspot.com

If you require any more information or have any questions about our privacy policy, please feel free to contact us by email at biyolojim@gmail.com.

At fragilexsyndrome.blogspot.com, the privacy of our visitors is of extreme importance to us. This privacy policy document outlines the types of personal information is received and collected by fragilexsyndrome.blogspot.com and how it is used.

Log Files
Like many other Web sites, fragilexsyndrome.blogspot.com makes use of log files. The information inside the log files includes internet protocol ( IP ) addresses, type of browser, Internet Service Provider ( ISP ), date/time stamp, referring/exit pages, and number of clicks to analyze trends, administer the site, track user’s movement around the site, and gather demographic information. IP addresses, and other such information are not linked to any information that is personally identifiable.

Cookies and Web Beacons
fragilexsyndrome.blogspot.com does use cookies to store information about visitors preferences, record user-specific information on which pages the user access or visit, customize Web page content based on visitors browser type or other information that the visitor sends via their browser.

DoubleClick DART Cookie
.:: Google, as a third party vendor, uses cookies to serve ads on fragilexsyndrome.blogspot.com.
.:: Google's use of the DART cookie enables it to serve ads to users based on their visit to fragilexsyndrome.blogspot.com and other sites on the Internet.
.:: Users may opt out of the use of the DART cookie by visiting the Google ad and content network privacy policy at the following URL - http://www.google.com/privacy_ads.html

Some of our advertising partners may use cookies and web beacons on our site. Our advertising partners include ....
Google Adsense

These third-party ad servers or ad networks use technology to the advertisements and links that appear on fragilexsyndrome.blogspot.com send directly to your browsers. They automatically receive your IP address when this occurs. Other technologies ( such as cookies, JavaScript, or Web Beacons ) may also be used by the third-party ad networks to measure the effectiveness of their advertisements and / or to personalize the advertising content that you see.

fragilexsyndrome.blogspot.com has no access to or control over these cookies that are used by third-party advertisers.

You should consult the respective privacy policies of these third-party ad servers for more detailed information on their practices as well as for instructions about how to opt-out of certain practices. fragilexsyndrome.blogspot.com's privacy policy does not apply to, and we cannot control the activities of, such other advertisers or web sites.

If you wish to disable cookies, you may do so through your individual browser options. More detailed information about cookie management with specific web browsers can be found at the browsers' respective websites.

fragile x syndrome filetype pdf

2009-05-29T06:41:00.000-07:00

fragile x syndrome filetype pdf: more information about fragile x sydrome there is a pdf online e-book on this site: please click here to download pdf document type of book now

Fragile X Documentary

2009-03-21T05:49:00.000-07:00

fragile x syndrome

2009-02-28T02:34:00.000-08:00

Created by Justin S., Julie and Brianna, students at the University of Missouri - Columbia for Genetic Diseases, Bio 2002, WS07

Fragile X Syndrome video

2009-01-18T06:49:00.000-08:00

Fragile X Syndrome video

new gene linked to fragile x syndrome discovered

2008-12-06T06:17:00.000-08:00

New Gene Linked To Fragile X Syndrome -- Suggests Potential Targets For Autism And Other Neurological Disorders

ScienceDaily (2008) — Scientists at The Scripps Research Institute have discovered a new gene involved in fragile X syndrome, a condition that often shares many symptoms of autism. The discovery may lead to new tests or treatments for several neurological disorders. click here to read full article at sciencedaily

genetic disease and fragile x syndrome

2008-11-03T14:36:00.000-08:00

Fragile x syndrome is caused alteration of the FMR1 gene located on chromosome X.
Males have one X chromosome and one Y, in women has two copies of chromosome X, the disease occurs only when both copies of the gene is altered , in women homozygous recessive. Women who have a healthy gene on one X and one altered on X are called heterozygous not develop symptoms and are healthy carriers, because they can still transmit the mutation to their children. The name of the disease stems from the fact that the X chromosome has a characteristic shrinkage.

fragile x syndrome genetic disease

2008-11-03T14:27:00.000-08:00

Fragile X syndrome genetic disease characterized by mental retardation in a more or less serious delays in the development of language and behavior disorders. With an incidence of 1 in 1200 males and 1 in 2000 females, is the most frequent cause of mental retardation after Down syndrome.

human genetic diseases caused by mutations

2008-10-20T07:52:00.000-07:00

Fragile X syndrome (or syndrome Martin Bell) is a human genetic disease caused by mutation of the FMR1 gene on the X chromosome, this mutation in a male over in 4000 and a female at 6000. About 1 in 256 women are carriers of Fragile-X and can transmit it to their children. About 1 in 800 males are carriers of Fragile-X; their daughters will, in turn, carry the gene. It accounts with Down syndrome primacy as the most common genetic cause of mental retardation.

Normally, the FMR1 gene contains between 6 and 53 repeats of CGG codon (repetition of trinucleotidi). In individuals suffering from Fragile X syndrome, the FMR1 allele has more than 230 repetizioni of this codon. This level of expansion causes the methylation of cytosine in the promoter of the FMR1 gene, thus silencing the expression of the FMR1 gene. The methylation of the locus FMR1, which is located on chromosome band Xq27.3, causing at that point, the constriction and the fragility of the X chromosome, a phenomenon that gives its name to the syndrome.

Males with a FMR1 gene with a significant expansion of the CGG triplet with the symptoms of the disease, since you normally have only one copy of chromosome X. Females, by contrast, have two copies of chromosome X and therefore have a chance to own at least twice a functional allele. The women with an expanded FMR1 gene on one of the two X chromosomes may show some symptoms of the disease or be normal (Figure right on all'ereditarietà linked recessive X chromosome does not correspond exactly to the case of Fragile X syndrome , But it exemplifies the situation).

Apart from the mental retardation of varying degrees from moderate to severe, other obvious features of the syndrome are elongated face, large ears, large testicles (macrorchidismo), and low muscle tone. Behavioral characteristics may include stereotypical movements (for example, beat their hands) and atypical social development, particularly shyness and limited eye contact situations. Some individuals suffering from Fragile X syndrome are also in the diagnostic criteria of autism.

The mutation and methylation of the FMR1 gene leads to the abolition of production of the protein for which the FMR1 gene encoding, that FMRP (fragile-X mental retardation protein). FMRP is a protein binding to RNA (RNA-binding protein) expressed mainly in the testicles and brain tissues most affected by the syndrome. FMRP RNA is associated with major messengers coding neural protein, and regulates some essential aspects, such as transportation along the dendriti to the synapses and the translation into proteins. In the absence of FMRP, many of the target RNA messengers of the protein are more deregulated and are translated into protein. There are also new molecular functions of protein, such as adjusting the stability of messenger RNA.

Although there is still no cure for the syndrome, there is hope that a better understanding of its causes may lead to new therapies. Currently, the syndrome can be treated through behavioral therapy, special education, and when necessary, treatment of physical abnormalities. We advise people who have relatives suffering from Fragile X syndrome to contact the geneticists to assess the probability of having sick children, and to know the seriousness of the problems that may have affected the descendants of the syndrome.

Fragile X syndrome

2008-09-13T14:37:00.000-07:00

The fragile X syndrome is a syndrome is the leading cause of inherited mental retardation (second leading cause of mental retardation of genetic origin after trisomy 21)
6% of children with learning disorders are carriers of this syndrome. The disease does not malformation and children affected by the disease have normal growth.
The disease manifests itself mainly in boys mainly by delays in mental and behavioural disorders various up autism. The girls affected by this disease have a delay intellectual means.
The disease reached 12 000 people in France.

Fragile X

2008-08-04T13:19:00.000-07:00

Fragile x syndrome is a genetical disease. This blog about fragile x syndrome, and fragile pictures, fragile images, fragile videos, fragile x syndromes, fragile x medias, fragile x visual, fragile x disease, fragile x patients, fragile x cure, fragile x girls, fragile x syndrome boys

What is Fragile X Syndrome ?

2008-04-03T08:58:00.000-07:00

Fragile X is a family of genetic conditions, which can impact individuals and families in various ways. These genetic conditions are related in that they are all caused by gene changes in the same gene, called the FMR1 gene.

Fragile X includes:

fragile X syndrome (FXS), the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. (Sometimes referred to as mental retardation.) FXS is the most common known cause of autism or "autistic-like" behaviors. Symptoms also can include characteristic physical and behavioral features and delays in speech and language development.

fragile X-associated tremor/ataxia syndrome (FXTAS), a condition which affects balance, tremor and memory in some older male gene carriers.

fragile X-associated premature ovarian failure (POF), a problem with ovarian function which can lead to infertility and early menopause in some female gene carriers.

Some gene carriers do not exhibit any of these features. To learn more about carriers click here.

Fragile X can be passed on in a family by individuals who have no apparent signs of this genetic condition. In some families a number of family members appear to be affected, whereas in other families a newly diagnosed individual may be the first family member to exhibit symptoms.

The National Fragile X Foundation (NFXF) has been helping individuals with Fragile X, their families, and the professionals who work with them, since 1984. As research into Fragile X continues, our understanding of who it affects and how it affects them will grow. The NFXF is committed to keeping the Fragile X community well informed.

www.fragilex.org

What is Fragile X syndrome?

2008-03-01T16:23:00.000-08:00

* Intelligence and learning – Many people with Fragile X have intellectual disabilities.

* Physical – Teens and adults with Fragile x may have long ears, faces, and jaws

* Social and Emotional – Most children with Fragile X have some behavior challenges

* Speech and Language – Most boys with Fragile X have some problems with speech and language.

* Sensory – Many children with Fragile X are bothered by certain sensations, such as bright light.

Fragile X Syndrome Pictures

2008-02-15T15:44:00.000-08:00

HOW IS FRAGILE X SYNDROME INHERITED?

2008-01-22T12:38:00.005-08:00

The gene for Fragile X syndrome carried on the X chromosome. Because both males (XY) and females (XX) have at least one X chromosome, both can pass on the mutated gene to their children.

If the mother has the altered gene for Fragile X she can pass that gene to either her sons or her daughters

If the mother has the mutated gene on one chromosome and has one normal X chromosome, and the father has no genetic mutations, all the children have a 50-50 change of inheriting the mutated gene.

TREATMENT OF FRAGILEX SYNDROME

Standart treatment includes specialeducation, speech, occupational, and sensory integration traning; and behavior modification program

DIAGNOSIS OF FRAGILE X SYNDROME

2008-01-22T12:38:00.004-08:00

Fragile X syndrome was originally diagnosis by cultıring cells in a folete deficient medium and then assessing the cultures for X chromosome breakage by cytogenetic analysis of the long arm of the X chromosome also diagnosisFragile X syndrome is difficult to diagnose in children.

An affected infant may develop normally at first. After age one year, though, the child begins to have noticeable delays in language and short-term memory. Physical signs of Fragile X, such as the typical facial features, are only noticeable after the onset of puberty.

A blood test known as FMR1/DNA is used to confirm the diagnosis.

SYMPTOMS OF FRAGILE X SYNDROME

2008-01-22T12:38:00.003-08:00

Some symptoms of fragile x syndrome below:
Larger ears
Large testes (macroorchidism)
Large jaw (prognathism)
The face is long and narrow
Speech delays
Prominent forehead

WHAT IS FRAGILE X SYNDROME?

2008-01-22T12:38:00.002-08:00

Fragile X syndrome is the must common inherited from of mental retardation
It results from a chamge or mutation in a single gene
Symptoms of Fragile X syndrome occur because the mutated gene cannot produce enough of a protein that is needed by the body cell especially in the brain, to developed and normally.
This syndrome is the second most common identifiable cause of genetic mental retardation after Down syndrome

CONTENT OF THIS BLOG

2008-01-22T12:38:00.001-08:00

What is Fragile X syndrome?
Symptoms of Fragile X syndrome
Diagnosis of Fragile X syndrome
Treatment of Fragile X syndrome
How is Fragile X syndrome inherited?

CONTENT OF THIS BLOG

2008-01-22T12:38:00.000-08:00

What is Fragile X syndrome?
Symptoms of Fragile X syndrome
Diagnosis OF This syndrome
Treatment of Fragile X syndrome
How is Fragile X syndrome inherited?

information about this syndrome ,