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Alex Townsend. Fragile X Syndrome. Background Info and Causes. Fragile X Syndrome is a sex-linked trait. It is caused by an unstable mutation in the X-Chromosome. Repetition of CGG over 200 times Mutation is extremely unstable
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Alex Townsend Fragile X Syndrome
Background Info and Causes • Fragile X Syndrome is a sex-linked trait. • It is caused by an unstable mutation in the X-Chromosome. • Repetition of CGG over 200 times • Mutation is extremely unstable • Individuals who have CGG repeated 60-200 times in their genetic code on the X-Chromosome carry the syndrome • People who have more than 200 of the CGG repetitions will show the symptoms of the disorder • 1 in 3600 males have it or .0027% of the population • 1 in 4000-6000 females have it or .0025 - .0017% of the population
Background and Causes II • The disorder is caused by a mutation on the FMR1 gene on the X chromosome • FMRP is a protein that calls of an unaffected person contain. It prevents the disorder from taking place. • The FMR1 gene is methylated in sufferers of the disorder or turned off which causes the person to be unable to produce the protein FMRP which is needed so that Fragile X does not occur.
Symptoms • The symptoms differ between males and females • They are wide-ranging and severely debilitating in both sexes • However, the female symptoms are somewhat less than the male symptoms.
Symptoms in Males • Symptoms in males • Physical Characteristics • Large ears and long face with a very pronounced chin. (less pronounced in females) • Physical Symptoms • Severe mental retardation • Both mental and learning abilities severely impaired • Impairment of physical abilities • Victim may have strange responses to sights, sounds and touch stimuli or may have no response at all. • A form of ADD may occur as well as speech impediments. • Behavior Changes • The victim may act similar to an autistic person • The person may bite their hands of flap them for no obvious reason. • The victims will often make very little eye contact
Symptoms in Females • Symptoms in Females • Physical Characteristics • Large ears and long face with a very pronounced chin. (less pronounced in females) • Physical Symptoms (all are commonly less severe in females than in males) • Mental Retardation • In females, the mental deficiencies associated with fragile X are often less than they are in males. • Impairment of physical abilities • Victim may have strange responses to sights, sounds and touch stimuli or may have no response at all. • A form of ADD may occur as well as speech impediments. • Behavior Changes • The victim may act similar to an autistic person • The person may bite their hands of flap them for no obvious reason. • The victims will often make very little eye contact
Treatment • There is currently no cure for Fragile X Syndrome though through special ed., speech and language therapy and physical therapy, we can help those affected adapt to the circumstances.
Screening • Fragile X is a hereditary, sex-linked disorder and is diagnosed through the FMR-1 gene test.
Society’s Perception of Fragile X • People are very often unhelpful and consider the sufferers to be weird or they stigmatize them as stupid “retards” for lack of a better word. • People consider those with the syndrome to be lesser than themselves. • These people are often stigmatized for having to attend a “special education” school. Indicating to many a type of mental inferiority to themselves.
BIBLIOGRAPHY • Abrams, MD, Liane J. Summary of Fragile X Syndrome. 25 Feb. 2009 <http://www.fragilex.org/html/summary.htm>. • Taylor, Annette K. Fragile X DNA Testing: A Guide for Physicians and Families . 25 Feb. 2009 <http://www.fragilex.org/html/diagnosis.htm>. • What's It Like to Have Fragile X. 25 Feb. 2009 <http://www.ygyh.org/fragx/have.htm>. • What is the Molecular Cause of Fragile X Syndrome? 25 Feb. 2009 <http://www.fragilex.org/html/molecular.htm>.
