Von Hippel-Lindau Disease

The lipoprotein gene mutation has a penetrance of greater than 90% (Henderson et al., 2016). Heterozygosity takes place when an individual has two dissimilar alleles of a gene. A single dominant gene can manifest itself in a heterozygous person particularly when there is high penetrance property. This is the reason why multiple generation can be affected by the FH disorder as seen in the proband and family members of the followed case discussion. Monogenic FH is largely attributed to mutations in the LDL-receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase, subtilisin/kexin-type 9 [PCSK9] genes (Brautbar et al.,

The disorder affects 1 out of 40,000 newborns (Atlas Genetics). Almost 90% of patients with this disease have a parent with the disease, but the symptoms in the parent can be very different from the symptoms in the child (MedlinePlus). Waardenburg syndrome type 1 (WS1) and type 2 (WS2) are inherited as autosomal dominant traits, which means one copy of the altered gene in each cell is sufficient to cause Waardenburg syndrome (GHR). Manifestations of the disorder may not be present in individuals that inherit the altered gene for the disease. Some cases of the disorder, such as type 3 (WS3) and type 4 (WS4) have an autosomal recessive pattern of inheritance. Type 1 and type 2 of Waardenburg syndrome can also be acquired even when there is no family history of the disorder. The disorder can be caused from new genetic changes that occur spontaneously for unknown reasons. Researches indicate that new sporadic mutations for type 1 of Waardenburg syndrome may be associated with the advanced age of the father. In dominant disorders, a single copy of the gene with the disease that is either received from the mother of father will be expressed in the offspring by dominating the other normal gene, which causes the result in the appearance of the syndrome (Rare

HCM can present at any age and can affect any race and gender. It is inherited in an autosomal dominant Mendelian pattern, variable expressivity, age-related penetrance, and incomplete penetrance. The probability of affected individuals passing the mutation and risk for the disease on to their offspring is 50 percent. However, de novo mutations may also be present in the proband, and lead to sporadic cases of the disease.

In the pronueral subtype there are mutations in the TP53 (TP53 is the gene for a protein that normally suppresses tumor

The genetic disorder I have been researching is Von Hippel-Lindau Syndrome. Von Hippel-Lindau Syndrome (VHL) is an inherited condition linked with the tumors in multiple organs. Organs such as blood vessel tumors of the brain, spinal cord and eye. VHL is passed on from generation to generation. A mutation in the VHL gene gives the person an increased risk of getting this disease. There are many different symptoms of this disorder. Some include difficulty walking and swallowing, headaches, poor coordination, and decreased feeling in the arms, legs, and body.

The VHL gene itself is made of three exon segments located on chromosome 3p25. Patients with VHL syndrome are heterozygotes of the VHL gene, with one allele that is a mutated or inactivated copy of the

In many nations the commonness of the heterozygous type of FH, in which a faulty gene for the LDLR is acquired from one parent and a normal gene from another is 1:500 and that of the homozygous form is 1:1,000,000 people which renders FH likely the most well-known illness created by a single gene mutation in people (Goldstein et al., 2002). it has been evaluated worldwide there are 10,000,000 individuals with FH of whom under 10% are diagnosed, and under 25% treated with LDL-lowering medications (Civeira, 2004). In many cases the diagnosis is missed until an intense clinical episode occurs. in a little number of genetically isolated groups the pervasiveness of heterozygous FH is much higher than in many populaces. In these populaces, few DLR mutations prevail. Increased prevalence of FH because of the founder impact can be distinguished in such populaces as Ashkenazi Jews, Africans, French Canadians, Lebanese, Icelanders and Finns (Austin et al.,

Because of the small amount of usable articles found via these searches, another two articles were included from a total of 23 articles given by our mentor R. van Rheenen. Most of the given articles were compatible for this review, but only these two were selected to keep a wide spread of different neoplasms in this review, instead of focussing too much on one or two kinds (7) (8).

There are different classifications of von Willebrand disease. Type 1 von Willebrand cubes mild to moderate symptoms and the most common form. The more severe ones are Type 2 and 3 which are less common. Von Willebrand disease only affects clotting (hemostasis) and causes no other disease effects. The genetics of this disease has been investigated and they found that a single gene, autosomal recessive, condition in which the normal gene is affected by a splice site mutation. The result of this is the reduced rate of von Willebrand factor(vWF) production. Some of the breeds that are at risk are Doberman Pinschers, German Shepherds, Golden Retrievers, Miniature Schnauzers, Pembroke Welsh Corgis, Shetland Sheepdogs, Basset Hounds, Scottish Terriers, Standard Poodles, and Manchester

In the disease the NF1 gene is located on the long arm of chromosome 17. Overall when considering an affected

This has a low power lobular architecture and there are usually adjacent benign changes with sclerosing adenosis and apocrine metaplasia.

The discovery of the first tumor suppressor gene was due to the search for the cause of a rare eye cancer effect children which is Retinoblastoma. Scientists have been looking for the cause of normal cells in the body turning into cancer cell. They observed that both patients with hereditary and non-hereditary retinoblastoma have a deletion in a specific area on chromosome 13. Making them conclude that this deleted sequence is

“Lamins are intermediate filament proteins forming a network in the inner nuclear membrane” (ubcmj.com). They are essential to the body, "maintaining the structural integrity of the nucleus" and have a hand in chromatin organization, DNA replication/transcription, and RNA processing (ubcmj.com). A common malfunction that occurs in HGPS patients is a heterozygous single cytosine to thymine point mutation in exon 11 at position 1824 of the coding sequence. Although there is no amino acid change, such mutation "generates a cryptic splice site, resulting in a transcript 150 base pairs shorter than normal and 50 fewer amino acids translated" within the prelamin A protein (ubcmj.com). The underlying problem of this

In neuroblastomas about 30% of tumours have multiple copies of MYCN, genomic amplification of this proto-oncogene is key in high-risk neuroblastoma contributing towards the aggressiveness, this is usually associated with poor-outcome thus having a malignant phenotype. According to various genome sequencing studies of the neuroblastoma tumour tissue by (reference), a low mutation rate in a small number of individual genes is seen. Recurrent changes in the genes; ATRX, MYCN and anaplastic lymphoma kinase (ALK) were identified to be of biological

Retinoblastoma is a cancer that develops in the retina of the eye, predominantly in young children. It occurs due to the mutation in the Rb gene, leading to the production of a dysfunctional Rb protein that cannot bind to a transcriptional factor in order to prevent further progression in the cell cycle. Consequently, uncontrolled proliferation takes place which results in a cancer developing. Two forms of the disease exist; familial and sporadic. In the familial form, the individual inherits one mutated copy of the gene and the other copy mutates in early childhood leading to presentation of the disease. In the sporadic form, both copies of the gene are normal at birth, however, chance mutations occur in both copies of the gene in a retinal cell causing the tumour to arise. Retinoblastoma is usually detected by abnormalities of the eye such as leucakoria and deterioration of vision. Treatments involve enucleation, chemotherapy and radiation therapy.