The Genetic Mutation Fragile X Syndrome Essay

A) Similarities between the symptoms of Tay-Sachs and Fragile X as well as the treatments or interventions.

Fragile X Syndrome is a genetic condition. FXS causes learning and behavioral challenges, intellectual disability as well as a variety of physical characteristics. Although Fragile X Syndrome can occur in males and females, males are affected more frequently than females are; furthermore, males with FXS generally experience characteristics with a greater severity than females with the condition do.

Fragile X Syndrome is a genetic condition causing intellectual disability, behavioural and learning challenges and various physical characteristics, it occurs in both genders but effects males more. Also is the most common gene for Autism worldwide, every week in Australia one child is born who is fully affected and 20 children are born who are carriers. It is estimated that 5 per cent of people with a diagnosis of an Autism Spectrum disorder also have Fragile X.

These mutations are also called germline mutations because they are present in the parent’s egg or sperm

Did you know that about 1 in 4,000 males and 1 in 8,000 females are affected by Fragile X Syndrome(CDC)? Fragile X Syndrome affects does not only affect the young or the old but it will affect anyone of any age. Children who have Fragile X Syndrome can learn many different ways of communicating with others. Also there are many ways to help a Fragile X children become more socially active. There are many ways to help Fragile X Syndrome children to communicate.

Fragile X Syndrome was identified in the year 1991. This disability affects more males than females. Approximately 1 in 4,000 males are affected, however only 1 in 8,000 females are affected (Lombroso, 2003). Fragile X generates in the FMR1 gene. Fragile X is caused by an excessively repeating tri-nucleotide,

The gene is mutated and it affects more males than females. Individuals with Fragile X have a large number of defects and disabilities including physical, cognitive, and neurobehavioral features (Jewell, J., 2004). This disability is caused by a gene that inactive which is the X chromosome. There is no known cure, yet, options are available to those who have this disorder. Individuals may receive speech therapy, physical therapy, and psychological services. For children attending school they may qualify for special education. Delays in cognition and learning are often associated with this syndrome. That's why; learning can be more challenging for these individuals. The impairments differ for those impacted with the syndrome. Accommodations are essential in order to meet the needs for each

Fragile X Syndrome, also known as FRAXA syndrome, fra(X) syndrome, FXS, marker X syndrome, or Martin Bell syndrome, is a disorder onset by a genetic mutation in the FMR1 gene. This gene produces a protein called FMRP which regulates the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells (National Library of Medicine, 2014). The FMR1 gene has a DNA segment called CGG triple repeat, which is repeated about 5 to 40 times in a typically developing individual. There are two type of mutations associated with Fragile X: A full gene mutation and a gene premutation. In cases of individuals with a full gene mutation, the CGG segment is repeated more than 200 times (National Library of Medicine, 2014).

Quercia, N., MS, CCGC, CGC, & Alic, M., PhD. (2016). Fragile X Syndrome. In T. Moy & L. Avery (Eds.), The Gale Encyclopedia of Genetic Disorders (4th ed., Vol. 2, pp. 712-715). Farmington Hills, MI: Gale. Retrieved from

Mutation- Most mutations have no negative evolutionary consequences, some of them however can be fatal. They are the only way that new genetic material and variation is introduced into the genome. Some mutations occur for unknown reasons. There are two different types of mutations; point and chromosomal. Point mutations are caused either by base substitutions or base insertion and deletion. The change in the bases has the ability to change the codon, therefore it can alter the amino acid sequence. Chromosomal mutations are the result of multiple possibilities; deletion, duplication, inversion, translocation, non-disjunction, and extra chromosomes. (Kobari)

Fragile X Syndrome is the most common known cause of inherited learning disability, affecting one in 4,000 men or boys and one in 6,000 women or girls. People with Fragile X Syndrome can have mild to severe learning disabilities. Their speech and language development may be delayed and they can experience anxiety in social situations. Behaviours associated with Fragile X can include a short attention span, impulsiveness, overactivity, dislike of eye contact, difficulty in relating to other people, the need for a familiar routine, repetitive speech and hand flapping or hand biting. Some of these are similar to difficulties that autistic people may experience. However, autism and Fragile X Syndrome are two different diagnoses. Some people are

Somatic mutations are mutations that are evident in the somatic cells of an organism. Somatic cells are cells that are not gametes; for example, your heart, blood, muscle, and skin cells are all considered somatic cells. Mutations to these cells can happen at almost any time but for wide spread distribution of the mutation it has to occur

A mutation is when a change in the DNA sequence occurs. Some mutations cause diseases, variations, or no affect at all.

Genetic alterations may be inherited from parents if the changes are present in the reproductive cells of the body such as eggs or sperm. In this case the changes, dubbed 'germline changes', are found to be in every single cell of the offspring. When the egg is fertilized by the sperm, a zygote is formed which divides to create a fetus. This fetus develops into a baby but because all of the cells within this body came from the first cell, they all share the same mutation or mutations. Inherited mutations are believed to be a direct cause of only a small portion of cancers.

The study of genetics includes not only the study of normal DNA, but also of the mutations within a DNA. A mutation is a slightly distorted gene. These mutations can have an effect on a person, both physically and mentally. Although genetics may seem to be just about the genes, scientists are beginning to see a connection between gender and genetic mutations.