Nf1 Essay

The diseases associated with FUBP1 include oligodendrogliomas, astrocytomas, and oligoastrocytomas. Oligodendrogliomas are primary glial brain tumors and can be either low-grade (grade II) or high-grade (grade III). [2] Since oligodendrogliomas have a slow growth rate, they are often present for years before they are diagnosed. Nevertheless, the most common symptoms include: seizures, headaches, and personality changes. Altogether, the symptoms vary by location and size of the tumor. About 66 to 78 % of people with grade II oligodendroglioma survive for about 5 years after diagnoses, while 30 to 38 % of people with grade III will survive for about 5 years after they are diagnosed. [3] Astrocytoma is another type of brain cancer that stats in the cerebrum, which is the largest part of the brain, but can also appear in the cerebellum, which is the back of the brain. It is more common in men than in women. Like oligodendrogliomas, the most common symptoms of astrocytomas include: headaches, seizure, changes in behavior and memory loss. [4] Prognosis of astrocytomas depends on the type of astrocytoma. Altogether, a low-grade astrocytoma (LGA) has an 83 % 10-year overall survival, while the overall survival rate of a high-grade astrocytoma (HGA) range between 15-20%. In both oligodendrogliomas and astrocytomas, the FUBP1 locus is mutated which leads to the inactivation of

Some nf1 tumors can become cancerous, treatment includes surgery radiation or chemotherapy, however for nf2 advanced diagnostic technologies such as mri can show tumors when the are as small as a few millimeters allowing early treatment. some cases of nf1 can cause cosmetic and psychological issues.

Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this

The numbers N1, N2, and N3 describe the size, location, and/or the number of lymph nodes involved. The higher the N number, the more the lymph nodes are involved.

Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal dominant disorder caused by germline mutations in the folliculin (FLCN) gene (Nookala et al., 2012; Nickerson et al., 2002; Menko et al., 2012; Hartman et a., 2009). BHD patients develop fibrofolliculomas and lung cysts increasing their risk to develop renal cell carcinoma (RCC) and pneumothorax (Nookala et a., 2012; Menko et al., 2012; Hartman et al., 2009). The majority of the BHD patient population contain germline mutations in FLCN exon 11. BHD research predicts FLCN mutations to result in a protein truncation of its c-terminal end, thus, suggesting the cause for its loss-of-function (Nookala et al., 2012; Nickerson et al., 2002; Schmidt et al., 2005; Toro et al., 2008). Due to BHD patients sharing clinical similarities with patients expressing mutations in tumor suppressor, TSC1/2, such as: facial harmotomas and RCC, promotes FLCN to function as a tumor suppressor (Hartman et al., 2009). Even though researchers hypothesized folliculin as a tumor suppressor, its exact molecular function remains elusive.

Starting the experiment, researchers began to gene code the human CELSR1 region. Figure 1 represents the 46 TGTG sequences and the three TGTGTG dinucleotide repeats. In reference to spina bifida cases, researchers were able to identify two repeated dinucleotides: TG-insertion (c.5050-5051insTG) which created a stop codon on the 1706th amino acid and TG-deletion (c.5719-5720delTG) which created a stop codon on the 1944th amino acid (Figure 1). Figure 1 and Table 1 also represent the data that was collected for the identified 11 missense Single Nucleotide Variants (SNVs)

. . M, P. (2015, October 27). An Overview of Human Genetic Disorders with Special Reference to African Americans. Retrieved November 16, 2017, from https://www.omicsonline.org/open-access/an-overview-of-human-genetic-disorders-with-special-reference-to-africanamericans-2155-9821-1000e139.php?aid=63273

Type 1 signs are birthmarks, freckles, neurofibromas, and lisch nodules. If 6 or more birthmarks appear on a child before the age of 5 the type 1 neurofibromatosis would be considered. If outbreaks of freckles in unlikely places such as groin and armpits this could be a possible sign for type 1. If neurofibromas (which is non-cancerous tumors that may grow on nerves of skin) appear deeper inside the body this may also be considered a sign for type 1. Also, if lisch nodules appear in the iris of the eye, this can also be a sign for neurofibromatosis type 1. Type 2 signs are acoustic neuroma, other tumors, and cataracts. Acoustic neuroma are tumors that develop next to the eighth cranial nerve, which goes from the brain to the inner ear. Acoustic neuroma is the most common sign of type 2 and has symptoms of facial numbness, gradual hearing loss, loss of balance, ringing of the ear, vertigo, and facial weakness. If other tumors develop on skin, brain, or spinal cord then this is a sign of type 2. For older people, cataracts can also be a sign for type 2

First, NF has many different symptoms and causes. NF1 causes skin features such as freckling all over the body, toumbers all over the body including the brain, bone abnormalities, nerve and tissue damage. NF2 causes all of the NF1 symptoms but there are only toumbers in the central nervous system. A mutation at the 17th chromosome causes this disorder. 50% of children of NF carriers will get the disease. Neurofibromatosis can also cause extreme learning disabilities.

Marfan syndrome is caused by transformations in the FBN1 gene. FBN1 mutations are associated with a broad continuum of physical appearance ranging from isolated features of Marfan syndrome to a dangerous and rapidly progressive form in infants.

The chromosomal abnormalities include turner's disease, laron dwarfism, noonan syndrome, sinotina wiley syndrome, russell xifushi, mutation / deletion of the short stature homeobox-containing gene, and skeletal dysplasia.

Once the MEPC2 gene was implicated in RTT there was an intense period of cohort screening in an attempt to elucidate genotypic-phenotypic associations (Weaving, 2005). As it stands there are an approximate 800 pathogenetic mutations that are currently found within the MEPC2 (Cheadle, 2000). These include missense, nonsense, frame shifts and inversions as well as large deletions which have now been identified as being present in 15% of apparently MECP2 mutation negative individuals. These large deletions would have gone undetected without the application of NGS techniques (Weaving, 2005). Work by Wolffe aimed to explore the associations between the type of MECP2 mutation and the degree of phenotypic severity. While work in this area is largely conflicted his study was concurrent with previous work concerning the view that particular mutations that were either point mutations, such as p.Arg133Cys, p.Arg294X, p.Arg306Cys and 3’ truncations resulted in a reduction in the severity of symptoms. There is also a wide consensus that missense mutations produce a less acute phenotype than nonsense mutations and that the most severe clinical features were the consequence of splice sites or large insertions or deletions (Weaving, 2005). The MEPC2 gene codes a protein, which is apart of the methyl-CpG-binding family. It contains three conserved functional domains. Work by Wolffe also examined which aspects of the protein were affected by each type of mutation. He found that Nonsense

commendable. Nonetheless, in at least some problem cases, resort to genetic analyses may be especially contributory, specifically assessing mutations in or deletions (loss) of the NF1 locus on the long arm of human chromosome 174

There are fewer symptoms for this type than NF1. There are fewer brown spots on the body. This disorder is noted for the frequency of tumors found on the spinal cord and brain. These tumors more often than not cause loss of hearing or a ringing sounds to occur in the ears.

Neurofibromatosis has been known to affect about 200,000 people in the United States every year. Neurofibromatosis is a disease that causes tumors throughout your nervous system. This disease can’t be cured, causes high blood pressure, a larger head, and occasionally scoliosis. Some common side effects are tumors in brain and nervous system, and bumpy tumors all over your skin.