Otherwise Called Nyhan 's Syndrome

INTRODUCTION. Idiopathic congenital nystagmus, or idiopathic infantile nystagmus is a disease characterized by the rapid, involuntary eye movement. This movement is typically in the horizontal direction, however, movement in other directions have been observed. One way to get nystagmus is through genetic mutations. Nystagmus caused by genetic mutation is seen at a relatively young age but cannot yet be treated. The disease is not understood well, it is believed that the cause is a developmental defect. The linkage, and inheritance has not been identified, the patterns suggest that multiple genes are involved in the disease and that there are loci on different chromosomes with three of the five loci located on the X chromosome. Mutations have been linked to the FRMD7 gene, a gene that consists of 12 exons, of the FERM family. The function of FRMD7 have yet to be determined however an abundance of the protein in the brain in areas associated with the eye. Mutations within this region consist of missense, deletion, tranversion and nonsense mutations. Over forty-four mutations that lead to ICN have been found in the FRMD7 gene. Learning more about the mutation of FRMD7 in ICN is important because these mutations may prevent elongation of neurite processes during differentiation preventing axons from responding to stimuli (Watkins et al. 2012).

There’s no easy way to put this, so I’ll say it straight out. It’s time I faced up to the truth. I’m fourteen years old and I have Ishmael Leseur’s Syndrome. There is no cure. But, as it turns out, Ishmael Leseur’s Syndrome is the best thing that ever happened to me.

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

In most cases, LHON is caused by adenine being replaced by guanine at the position 11778 in mtDNA (ND4 gene). This causes the amino acid histidine to be inserted instead of arginine. This is at the location of the 340th amino acid in the respiratory enzyme NADH subunit 4, and results in a defective function. (Phillips C et al., 1991). In the case where the base at position 4160 is changed, it results in the amino acid proline being substituted for leucine. (Howell et al., 1991). A G to A change at the position of 3460 converts alanine to threonine. Huoponen et al, 1991)

           Rule:  For the past forty years it has been the rule that liability belongs only to the

Imagine being a kid, going to school and struggling a little more than everyone else. You're the tallest in your class, and different than your friends. You can’t pronounce words as well as they can, and they can’t really understand you. You have to have special classes to help with your learning disabilities. These things describe XYY Syndrome, also known as 47, XYY Syndrome; Jacob’s Syndrome; XYY Karyotype; and YY Syndrome. (NORD). It is a genetic disease in which males have an extra Y chromosome due to an error in cell division.

Noonan syndrome is a genetic birth defect that results in many physical deformities and possible developmental handicaps. Noonan Syndrome affects male children while Turner Syndrome affects females. This paper will focus solely on Noonan Syndrome, which affects 1 in approximately 2,000 people. Complications include but are not limited to: short stature, widely spaced eyes, some form of heart disease, and stunted puberty or infertility. Noonan syndrome is a biochemical disorder that occurs before a person is born and is formed through the genetic makeup of the parents that result in that of their offspring.

Imagine yourself walking into a grocery store, and having all eyes stare at you in shock. As you continue to walk, they can’t help themselves but stare even more. Most people won’t even get near you; they are scared as if you could hurt them in any way. Believe it or not there are people who have no choice but to deal with situation everyday. What they have is a genetic disorder called Noonan Syndrome, and they do not choose to have this.

Six year old Eric is continuously brought to a local clinic by his mother Monica for treatment of abdominal cramps or according to the mother, appendicitis. Eric is the only son and lives with his mother. With each appointment, Eric symptoms become more progressive, resulting in his hospitalization. As his length of stay increases, Eric’s doctor, Dr. Spencer begins to suspect that something is wrong and suspects Munchausen’s syndrome by proxy, however, none of the other hospital staff members believes Dr. Spencer. As Eric remains hospitalized, his hospital roommate, Ben, begins to develop similar symptoms Eric has been presenting. Dr. Spencer would like to monitor Eric’s mother without her knowledge, but the

Lesch Nyhan Syndrome (LNS) is a rare condition that affects young children, almost exclusively males. Kidney stones, inadequate muscle control, and the urge to self-harm are all common symptoms of LNS (2). Extensive research is being conducted in order to gain knowledge on the exact causes and preventions of such a peculiar disease.

mutation is phenylalanine 508 known as delta F508. Delta F508 is a deletion of 3 nucleotides

Cri-du-Chat (cat’s cry) Syndrome is a rare chromosomal disorder that is caused by the deletion of genetic material on chromosome 5. Due to this, this syndrome has an alternative name, known as 5p-, or 5p minus syndrome. Although this genetic defect is able to be diagnosed, the cause of the deletion on the chromosome is unknown. Almost all cases of the Cri-du-Chat Syndrome are found to have no relation with family members or previous generations. This syndrome is generally not inherited, as the deletion occurs randomly during meiosis (the formation of the gametes). In about 90% of people who have this condition, the deletion is completely random and is not inherited. The remaining 10% of affected people inherit a chromosome with a deleted section from an unaffected parent. This is because the parents’ balanced

Noonan syndrome is an autosomal dominant genetic disease that affects facial characteristics, heart, skeletal formation, stature, and may other areas of the body. Approximately 1 in 1,000 to 2,500 people are affected by Noonan syndrome. Those affected by this disease have deep grooves around their mouth and nose area, low ears, and wide eyes. Other distinct features of Noonan Syndrome include shorter necks, excess skin around the neck, and low hairlines. A common heart defect associated with this disease is the narrowing of the value that controls blood flow from the heart to the lungs. Although an individual may be affected by this syndrome, most still have a normal intelligence. A mutation occurs on the PTPN11, SOS1, RAF1, KRAS, NRAS,

Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a person’s body being unable to metabolize the amino acid phenylalanine. The disease can cause mental retardation because the build up of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino acid, tyrosine, it can create other enzyme routes that build up in the blood stream and body tissue. This can be extremely harmful to the body and its development. This disease is caused by missing the enzyme phenylalanine hydroxylase, this enzyme is the one that normally breaks down phenylalanine. It is rare for this enzyme to be completely absence, but this form leads to the most severe mental

Lynch syndrome, previously known as hereditary nonpolyposis colorectal cancer (HNPCC) is a parental inherited condition that exposes a person to the risks of cancers, but most commonly colon cancer1-9. It is a heterozygous autosomal dominant genetic condition, which means that if only one parent carries the gene for Lynch syndrome (LS), then a 50 percent chance of passing on the mutation will be passed to each child1-9. LS is limited to families with a known pathogenic germline mutation2. A germline mutation is when mutations occur in the germ line, which is a group of cells that contribute to the improvement of gametes2,3,10. To find out how individuals are to contract this disease, the family medical history must be taken into account. Early