Fragile X Syndrome Synthesis Essay

Approximately one-third of the females with Fragile X Syndrome have a substantial learning disability, the other two-thirds have mild to moderate intellectual disabilities. This two-thirds may also experience issues related to their mental/emotional health as well as social and/or general anxiety disorders. Although rare, there are some females whose FMR1 Gene, which is the gene responsible for causing FXS, fully mutates; thus, eliminating any apparent signs of Fragile X Syndrome. These females usually remain undiagnosed until another family member is diagnosed with the syndrome.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

And this disorder affects the skin, hair and nails. This happened because the layer that is in charge of these things when the fetus was being created failed to develop. Malanie Gaydos, who is a model, has this genetic information she lacks hair, teeth, nails and her skin is very sensitive. She has learned to embrace this disorder and is now living her

The cause of the disorder is being born with three copies of chromosome 18 but you normally would have two copies. One symptom of my disorder is Atrial Septal Defects, these defects are the two top chambers of your heart having a hole in them. Another symptom is Cachexia this is losing muscle mass gradually. Camptodactyly and deviation of the fingers which makes them deformed. Cognitive impairment is a decline of aging, memory, judgment and more. They also have facial deformities. One facial deformity hypertelorism is having skin folds in the corner of your eyes.

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.

Five other gene disorder that contributes to autism are (1) "EN2 (Engrailed 2) involved in cerebellum development. (2) GABR (Gamma Amino Butyric Acid Receptor) regulates brain cell migration. (3) OXTR (Oxytocin Receptor) participating in the response to stress and social skills. (4) RELN (Reelin) involved in neuronal migration in the developing brain. (5) SLC6A4, a serotonin transporter gene” (Johnson, Giarelli, Lewis, & Rice, 2013). As a result of all the researches done several chromosomal loci have been shown to be linked to Autistic Spectrum disorder including those at 2q24-2q31, 7q22-7q31, 7q34-7q36, and 17q11-17q21. Structural chromosomal changes involving deletions and duplication at 7q11, 15q11-15q13, 17p11.2, 22q11.2, and 22q13 have also been associated with forms of autism. However, the most common chromosomal abnormalities currently associated with autism include the fragile X mutation, other sex chromosome abnormalities, and abnormalities of 15q11-q13. “Evidence has shown that duplications of 15q11–q13 have led to higher risks of Autism Spectrum Disorder and developmental and cognitive deficits” (Flashner, Russo, Boileau, Leong, & Gallicano, 2013). Chromosome 15q11-q13.1 region is subject to genomic imprinting, which is an epigenetic process that results in monoallelic gene expression. Duplications lead to autism and are usually maternal in origin. Deletion of the maternal allele of chromosome 15q11-q13 cause Angelman syndrome (AS) a neurodevelopmental disorder

Fundamentally, mutations of the FMR1 gene occur in which a DNA segment, specifically the CGG triple repeat, which contains instructions for producing a protein called FMRP, is excessively expanded within the gene. Normally the segment is repeated five to forty times in the gene, but in Fragile X Syndrome the strand is repeated over 200 times. The abnormally expanded segment mutes the FMR1 gene, preventing it from producing the protein, FMRP. Deficiency of the protein disrupts functions of the nervous system resulting in the symptoms of Fragile X Syndrome. The condition is inherited through an X-linked dominant pattern.

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

The Fragile X Syndrome is a trinucleotide expansion of “CGG” repeats. It repeats in the untranslated region of the gene which reduced or absent the amount of protein production. Based on what have learned from genetic class, the “CGG” repeats up to 6 to 40 times, but if it is permutation they will beyond 200 times. We also touch the bases of Fragile X Syndrome in the lecture of cognitive Disabilities where it have concluded that CGG repeats begins from the FMR1 gene. The FMR1 gene is associated with Ribonucleic acid which helps to regulate the other genes that are associated with neurons.

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,

For example, gene 3p22 would be located on chromosome 2, P-arm, and the 22nd region of the dark/light bands on the P-arm. Mutations on genes GNPTAB (12q23.2), GNPTG (16p13.3), and NAGPA (16p13.3) may cause about 10 percent of cases of stuttering. These three genes are involved in the breakdown and recycling of cellular components in the brain. In addition to the previously mentioned genes, DRD2 (11q23.2) and AP4E1 (15q21.2) may also contribute to stuttering behaviors. A DRD2 mutation causes myoclonus dystonia, which is relative to Tourette Syndrome—individuals with Tourette Syndrome exhibit many stuttering-like behaviors. Additionally, AP4E1disruption may be associated with Cerebral Palsy—individuals with congenital disorders like Cerebral Palsy have higher degrees of stuttering than individuals without congenital

The X chromosome is a sex chromosome which is normally seen in women as (XX) and in men (XY). The FMR1 is a mental retardation gene. Its main function is to give a set of guidelines for the body in making protein. When this gene is lengthened the process of making the protein is stopped and involves brain development and other functions. Fragile X Syndrome can be passed down through generations. A daughter born to a father who has FXS will be affected but the son will not be effected as they do not inherit the fathers X chromosome. If the mother has FXS both genders have 50% of inheriting this syndrome.

An extremely rare, incurable, genetic disease was recently acknowledged within the last fifty years. In order to properly recognize the rare disorder, “Syndrome X” was appointed to the disease as a placeholder for an official name (Walker, 2015). Even though every person who has ever been diagnosed with Syndrome X, who all happen to coincidentally be of the female gender, have had it since birth, the syndrome is exclusively diagnosed a few years after someone is born. This is due to the symptoms only being recognizable after signs of maturity have not been noticed and how drastically the syndrome can affect the physical appearance of a person. The girls diagnosed with the condition are marked by what seems to be a permanent state of infancy or a dramatic developmental arrest

A child with this disorder can suffer from a number of symptoms. The mutation cause symptoms like weak muscle tone, delayed motor skill developed, and delayed or absence of puberty. Only male persons can have this disorder and are more likely to have severe cryptic acne during adolescence. A male