What is Fragile X?
Fragile X syndrome is one of the most common forms of mental retardation. 1 out of every 4,000 males and 1 in 8,000 females has fragile x. All race, religions and ethnicities are able to obtain Fragile X, although boys tend to be affected more severely, due to the lack of a second X chromosome. This syndrome is caused by a mutation in the FMR1 gene. This gene extremely expands and enlarges the CCG triplet in the FMR1 gene, in which they normally repeat. In the normal individual, the CCG segment is repeated about 5 to 40 times. However, those with Fragile X often have the segment repeated over 200 times. This inactivates the FMR1 gene entirely and doesn’t allow it to produce the protein called “fragile x mental retardation protein”.
What are the symptoms?
The symptoms of Fragile X in a person who has the full FMR1 mutation have mild to moderate mental retardation. Males have a high tendency to contract moderate abilities, while women are more likely to have mild symptoms. Facial appearances may include a defined forehead and chin, a long face, and enlarged ears. Boys may also have larger testes after puberty. After puberty, individuals are shown to have poor eye contact, and altered speech and attention span. Behavioral problems include loose joints, hyperactivity, flapping of the hands, temper tantrums, poor coordination, attention deficit disorder (ADD), and autism. Physical problems are problems with the heart, skin, mouth, and eyes, and tremors may also occur. Woman may have premature menopause or difficulty becoming pregnant.
How can it be treated?
A Polymerase Chain Reaction (PCR) test can be performed to diagnose Fragile X syndrome. This test(s) looks for a triplet repeat in an expanded mutation in the FMR1 gene. Although there is no specific treatment available, there still are many other alternatives to turn to if you of your child his Fragile X syndrome; special education programs and schools, treatment for any hearing, vision, tissue, or heart problems, medication could be prescribed for by a doctor for behavioral issues, etc. As infants, children with fragile X syndrome may display poor muscle tone, gastric reflux, and frequent ear infections. Their motor and mental milestones, as well as their speech, tend to be delayed.Children develop speech impairment and judgement disabilities as a symptom around age two, and they should seek further medical attention in that case. The life expectancy is from about 5 to 25 years of age.
What is the inheritance?
Fragile X can be inherited, however there must be an X-linked dominant pattern. The mutant gene must be located on the X chromosome for it to be dominant. On that note, X-linked inheritance cannot be passed down from father to son.
What research is being done now about Fragile X?
Dedicated professionals are working hard on new treatments and medicine that could be provided to those with Fragile X. New drugs are to come in the future that improve behavior, communication, and learning expectancy in the next upcoming 2-5 years.
Are there alternative names for Fragile X?
Other names for Fragile X include FRAXA syndrome, fra(X) syndrome, FXS, marker X syndrome, Martin-Bell syndrome, or X-linked mental retardation and macroorchidism.
Pedigree of Fragile X Syndrome
Fragile X syndrome is one of the most common forms of mental retardation. 1 out of every 4,000 males and 1 in 8,000 females has fragile x. All race, religions and ethnicities are able to obtain Fragile X, although boys tend to be affected more severely, due to the lack of a second X chromosome. This syndrome is caused by a mutation in the FMR1 gene. This gene extremely expands and enlarges the CCG triplet in the FMR1 gene, in which they normally repeat. In the normal individual, the CCG segment is repeated about 5 to 40 times. However, those with Fragile X often have the segment repeated over 200 times. This inactivates the FMR1 gene entirely and doesn’t allow it to produce the protein called “fragile x mental retardation protein”.
What are the symptoms?
The symptoms of Fragile X in a person who has the full FMR1 mutation have mild to moderate mental retardation. Males have a high tendency to contract moderate abilities, while women are more likely to have mild symptoms. Facial appearances may include a defined forehead and chin, a long face, and enlarged ears. Boys may also have larger testes after puberty. After puberty, individuals are shown to have poor eye contact, and altered speech and attention span. Behavioral problems include loose joints, hyperactivity, flapping of the hands, temper tantrums, poor coordination, attention deficit disorder (ADD), and autism. Physical problems are problems with the heart, skin, mouth, and eyes, and tremors may also occur. Woman may have premature menopause or difficulty becoming pregnant.
How can it be treated?
A Polymerase Chain Reaction (PCR) test can be performed to diagnose Fragile X syndrome. This test(s) looks for a triplet repeat in an expanded mutation in the FMR1 gene. Although there is no specific treatment available, there still are many other alternatives to turn to if you of your child his Fragile X syndrome; special education programs and schools, treatment for any hearing, vision, tissue, or heart problems, medication could be prescribed for by a doctor for behavioral issues, etc. As infants, children with fragile X syndrome may display poor muscle tone, gastric reflux, and frequent ear infections. Their motor and mental milestones, as well as their speech, tend to be delayed.Children develop speech impairment and judgement disabilities as a symptom around age two, and they should seek further medical attention in that case. The life expectancy is from about 5 to 25 years of age.
What is the inheritance?
Fragile X can be inherited, however there must be an X-linked dominant pattern. The mutant gene must be located on the X chromosome for it to be dominant. On that note, X-linked inheritance cannot be passed down from father to son.
What research is being done now about Fragile X?
Dedicated professionals are working hard on new treatments and medicine that could be provided to those with Fragile X. New drugs are to come in the future that improve behavior, communication, and learning expectancy in the next upcoming 2-5 years.
Are there alternative names for Fragile X?
Other names for Fragile X include FRAXA syndrome, fra(X) syndrome, FXS, marker X syndrome, Martin-Bell syndrome, or X-linked mental retardation and macroorchidism.
Pedigree of Fragile X Syndrome