History Of Birt Hogg Dube ( Bhd ) Syndrome Essay

Using these three articles (or more), you should tell the story of the discovery and developmental function (including the relevant signaling pathway) -

The FBN1 gene is responsible for providing instructions for the production of fibrillin-1, which is a protein that is secreted into the matrix of connective tissue (“FBN1,” 2015). Therefore, a mutation in this gene can cause the excessive production of fibrillin-1, and when fibrillin-1 binds to other proteins they form threads called microfibrils. Microfibrils contain a growth factor called transforming growth factor beta or TGF-β (“FBN1,” 2015), so when there is an increase of TGF-β, problems with the connective tissue throughout the body can occur (“What is Marfan Syndrome? | The Marfan Foundation,” n.d.), more of these problems will be elaborated upon further in the report. The genetic mutation in the FBN1 gene is usually hereditary, but it is possible for one to be the first in their family to have this genetic mutation. If one has this mutation

The National Institute of Health (2014) listed the most common form of familial hyperinsulinism to be an autosomal recessive genetic defect that is common among the Ashkenazi Jewish population. This condition affects 1 in 66 carriers who are Ashkenazi Jews since they have reported consanguineous marriages (NIH, 2014). Among Ashkenazi Jews, two single ABCC8 mutations account for 90 percent of cases of familiar hyperinsulinism (Mazor-Aronovitch, et al, 2007). The incidence of FHI in individuals of northern European descendants is approximately 1:30,000 live births. The incidence is increased in genetically isolated populations with a high prevalence of consanguinity (UpToDate.com).

Hutchinson-Gilford Progeria Syndrome (HGPS) affects approximately 1 in 4-8 million newborns. It is characterized by rapid aging, but no symptoms are seen at birth. Within a year, infected children start showing symptoms such as a receding jaw, pointy nose, partial to total hair loss (alopecia), fat loss, bone disfigurements, a short stature and skin problems (Pollex 2004). The disease progresses with time, and eventually leads to death at an average age of about 13 years. Death is usually caused by some form of cardiovascular disease, usually induced by atherosclerosis (Wuyts et al. 2005). Most cases of HGPS are due to de novo autosomal dominant point mutations in the lamin A/C gene (LMNA). There are some reported cases suggesting autosomal recessive inheritance, but further testing needs to be performed.

Crouzon syndrome is an autosomal dominant genetic disorder and is the most common craniosynostosis syndrome with an incidence of 16.5/1,000,000, representing 4.8% of craniosynostosis cases, and a prevalence of 1/60,000 in the U.S. Crouzon syndrome is caused by an activating mutation of the FGFR2 gene, an important factor in the conversion of the fibrous joint areas between sutures to bone. Specifically, the missense mutation occurs within exons IIIa and exon IIIc of the extracellular immunoglobulin domain, IgIII, in 95% of Crouzon patients. Generally, cysteine residues are replaced, preventing critical disulfide bond formation and ultimately cause spatiotemporal malformations. There are at least 32 documented unique mutations, 30-60% of which are sporadic, spontaneous mutations.

An estimated 4 million dogs in the US are at high risk of suffering from brachycephalic syndrome (Jacot). Dogs with this disease are, at best, noisy breathers, snort when excited, and snore. At worst, their airway noise is significantly more pronounced, they tire easily, and may collapse or faint during and after the simple exercises, like walking around the block. These animals cough, gag, retch, and vomit, which may worsen in hot or humid weather.

Usually women have two X chromosomes while men have one X chromosome and one Y chromosome. There are some cases where babies do not have any of these arrangements mentioned above (Through the Wormhole video). As people study these kind of cases, they have realized that there might be more than two sexes. For example, I learned that some women can be born with “Swyer syndrome”, which makes them anatomically and physiologically a female but they never achieve female sexual maturity (The Gene: An Intimate History). When their cells were examined, they discovered that they had XY chromosomes in their cells. Basically, they were chromosomally male but anatomically, physiologically, and psychologically female (The Gene: An Intimate History). Goodfellow discovered the SRY gene. This gene was the determinant of maleness but it was flicked off on women with Swyer

Birt-Hogg-Dube syndrome is a rare disorder where you have certain tumors. Most tumors appear on the face, forehead, and neck. BHD is caused by mutations in the FLCN gene. (Genetics Home Reference) BHD is also inherited from parents or the grandparents. The symptoms are, tumors on face, neck, and the forehead. (Genetics Home Reference) BHD increases the risk of getting cancer.

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., 2008; Menko et al., 2012; Hartman et a., 2009). Patients with BHD initially develop fibrofolliculomas, typically as benign facial tumors, and lung cysts; whereby, 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, which is a hotspot for disease causing mutations. BHD research predicts mutations in FLCN results in a truncated folliculin protein lacking its c-terminal end, thus, suggestion the

all cases of FXS are developed through the mutation in the FMR1 gene where a part of the DNA (known as CGG triplet repeat) is expanded

Marfan syndrome is a histological disorder that specifically deals with one of the four primary types of tissue known as connective tissue. Marfan syndrome is also considered an autosomal dominant disease, meaning this disorder requires only one parent or donor to carry the abnormal gene for it to be inherited in the offspring. The inheritance of the abnormal gene is the biological basis or genetic trigger that results in a mutation that occurs in the gene named fibrillin-1, or short FBN1. The respective location of gene FBN1 is on chromosome 15. Function of the FBN1 gene includes storing the blueprints for making the glycoprotein fibrillin-1, which is a component of many tissues. When produced, the fibrillin-1 protein exits the cell via transport

Usher syndrome is where a human losing hearing, some balance, and loss of vision. The genes are MY07A, USH1C, CDH23, PCDH15, and SANS. The chromosomes are 15 in which are haplotypes. Haplotypes is a group of genes within an organism that was inherited together from a single parent. The main symptoms of usher syndrome are hearing loss and an eye disorder call Retinitis Pigmentosa (RP.) Retinitis Pigmentosa causes night-blindness and loss of peripheral vision. Peripheral vision is where a person has side vision.

In patients with a positive family history of non-syndromic PCC/PGL and those with head and neck PGL, this number can be as high as 79% and 54% respectively (7). Ten known susceptibility genes have been identified for PCC/PGL to date. Including von Hippel-Lindau disease (vHL) (VHL), Neurofibromatosis Type 1 (NF1) (NF1) and Multiple Endocrine Neoplasia Type 2 (MEN2) (RET). These three genes are well known cancer susceptibility syndromes; the Succinate Dehydrogenase (SDH) complex subunits genes (SDHA, SDHB, SDHC & SDHD); The SDH complex cofactors (SDHAF2); TMEM127 and MAX (table 1). Thus, the occurrence of PCC/PGL although infrequently but associated with an inherited mutation more commonly than other cancer disease. Based on transcription profile revealed by microarray analysis, hereditary pheochromocytomas and paragangliomas can be divided into two clusters. One cluster is the VHL and SDHx mutant genes while the other are RET, NF1, TMEM127 and MAX mutant genes. Surprisingly, sporadic tumors were represented in both clusters

FH is a gloomy disorder with its genesis in early childhood resulting in damaging consequences in later life. Although the physical examination findings and lipid measurements are used to identify others who have inherited the disorder that are essential to reducing the risk of early cardiovascular disease, which is supportive to find out the common signs, such as xanthelasma, xanthoma, corneal arcus.

Post-OLT GVHD poses a diagnostic challenge and may be under-diagnosed due to the lack of specific clinical or histopathologic features. Early diagnosis of GVHD is important to decrease the severity of infections as well as mortality rate. The diagnosis may be delayed, because similar presentations can be seen with drug reactions and bacterial or viral infections. Diagnosis is made on the basis of clinical and histological evidence and the presence of chimerism. Post-OLT GVHD can be classified into four stages based on the clinical sign and symptoms. (Table-2) Serologic and molecular techniques have been used to diagnose post-transplant GVHD. Due to the nonspecific features of rash and other clinical symptoms, chimerism is an important investigation to confirm OLT related GVHD, in the presence