Nf1 Essay

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.

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.

(Giarelli, Bernhardt, & Pyeritz, 2010, Lashley, 2007 ,Canadas et al., 2010). The mutant gene is found on an autosome consequently, the syndrome can affect males and females equally. While, only one copy of the mutant gene is necessary for the disorder to be present (Lashley, 2007). Fibrillin-1 is a large gene, made of complex glycoproteins that are responsible for the flexibility and strength of connective tissue (Giarelli, Bernhardt, & Pyeritz, 2010 & Gonzales, 2009). Fibrillin-1(FBN1) is most abundant in the cardiac, ocular and, skeletal system throughout the body. This glycoprotein can also be found in elastic and non- elastic tissues and is a chief component of microfibrils. Microfibrils maintain cellular bonds in the extracellular matrix and form the framework of elastic fibers in the aorta and ligaments of the musculoskeletal system and multiple organ systems (Keane & Pyeritz, 2008). These microfibrils consist of the structural parts that support the ligaments in the ocular lens and have a load-bearing role in elastic arteries (Chen & Buehler, 2010). As a result of the mutation in the FBN1 gene abnormalities occur in the microfibrils and can cause faulty connective tissue. The mutations were thought to create weakness of the aortic wall, lens dislocation, joint hyperlaxity and, widening

. . 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

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

There are many symptoms of NF1 such as, Neurofibromas that are common tumors in NF that develop on or just under the skin but can appear deeper in the body, also neurofibromas are composed of nervous system tissue and fibrous tissue. However lisch nodules are clumps of pigment in the iris, and can confirm a case of NF. Most serious symptoms of NF are shown at birth or early in life, one of these symptoms is known as scoliosis. Scoliosis is curvature of the spine. Often children with NF also have learning disabilities that impact writing and use of numbers as well as having increased head circumference which on a rare case can cause hydrocephalus which can be a serious problem (Martin 1). (Martin,1)

Although folliculin function is speculative, its highly conserved. FLCN gene contains 14 exons and exon 11 is constituted as a mutational hotspot due to the majority BHD patient population contain mutations in this exon. As many as 84 variants in the folliculin gene are reported to cause BHD by which majority of the mutations cause FLCN truncation deletion (Hasumi et al., 2008). FLCN protein structure and

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.

They are considered to be benign, as they do not invade into the surrounding tissue but have well-defined borders. They occur most often in children and teens with a 10-year survival of over 90 %. Unlike these, Grade II Astrocytomas do invade into healthy tissue and often progress to higher-grade tumors. Patiens have a 5-year survival rate of about 50 % (Goodenberger & Jenkins, 2012). Anaplastic Astrocytomas are fast growing, highly aggressive and mostly occur in young adults. These grade III tumors show a high proliferation rate, mitotic activity and pleomorphism (Kleihues et al., 2002). Most patients progress to grade IV astrocytoma (Ohgaki & Kleihues, 2007). Despite treatment, the 5-year relative survival rate is approximately 29 %. The survival rates vary widely by age with younger people having a better outlook. However, prognoses are much worse for patients diagnosed with glioblastoma. Most patients die within one year from diagnosis (Ostrom et al.,

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

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)

Prader - Willi Syndrome is caused by the deletion or not getting Chromosome 15 from the dad. This disorder

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.

The American Joint Committee on Cancer developed the TNM staging system. The T classification measures the scope of the primary tumor; the N classification measures how much the lymph nodes are affected; and the M classification evaluates metastasis. The T category characterizes the primary tumor as: TX-undefinable, T0-no evidence, Tis- carcinoma in situ, and T1-T4- the measurable scope of the tumor with T4 being the largest. The N category is defined as: NX- not evaluated, N0-no involvement, and N1-N3-regional lymph node involvement measuring the extent with N3 being the worst. The M category is listed as: M0- no metastasis and M1- metastasis. The T, N, and M classifications are then added together to get the more commonly known 0-IV staging. (AJCC,

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.