Waardenburg Syndrome Research Paper

Because there are different types of Waardenburg Syndrome, there are different types of inheritance patterns. Types I and III have an autosomal dominant inheritance pattern while types II and IV have an autosomal recessive inheritance pattern (Calendar 2013). The most common type of inheritance is the autosomal dominant inheritance (Type two 2013). An autosomal dominant inheritance pattern means that the mutated gene (EDNRB, EDN3, MITF, SNAI2, PAX3 and SOX10) is in each cell to cause Waardenburg Syndrome (Genetics 2013). In other words, only one parent has to have the copy of the altered gene in order for someone to have the syndrome. An autosomal recessive inheritance pattern means that the mutated gene has to come from both parents in order for a person to have Waardenburg Syndrome (Calendar 2013). Even though both parents carry the mutated genes, they don’t usually show any signs or symptoms of Waardenburg Syndrome.

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

AS is caused by a deletion or mutation on the maternal chromosome 15, alteration in UBE3A gene, paternal uniparental disomy, translocation, or mutation in the gene that activates UBE3A gene. PWS is a deletion or mutation on the paternal chromosome 15, uniparental disomy, or translocation. The loss of the SNORD116 gene on chromosome

Wiskott Aldrich Syndrome is a very rare, life threatening disorder which is found mostly in men.

Miller-Dieker lissencephaly syndrome (MDS). MDS features include classic lissencephaly (incomplete or absent gyration of the cerebrum), craniofacial dysmorphims, mental retardation and intractable epilepsy. MDS is a life-shortening disease, with death most often occurring during early childhood (Dobyns, W.B., Curry, C.J.R., Hoyme, H.E., Turlington, L., and Ledbetter, D.H. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am. J. Hum. Genet 1991. 48, 584–594; Nagamani, S.C., Zhang, F., Shchelochkov, O.A., Bi, W., Ou, Z., Scaglia, F., Probst, F.J., Shinawi, M., Eng, C., Hunter, J.V., et al. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

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

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. (n.d.). Retrieved April 18, 2016, from http://www.nature.com/eye/journal/v25/n11/full/eye2011201a.html

Also, if caught early enough, the less likely there will be residual brain damage and memory impairment. Treatment for WKS is immediate administration of thiamine. Thiamine doses differ from patient to patient depending on severity of the WKS. Oral thiamine supplements are not effective in severe cases because of the liver damage and disrupted thiamine metabolism. It usually is administered intramuscularly. Taking the thiamine may not completely reverse all damage, but can prevent the progression of the disease. Also, a few lifestyle changes should be made, including a complete diet and refraining from heavy

Prader-Willi syndrome(PWS) is a disease caused by spontaneous genetic mutations in chromosome 15 which is evident in the early development of a fetus. Specifically, there is a deletion or a loss of genes from that chromosome. Dr. Prader, Dr. Willi, and Dr. Lambert were the first people to describe the features of PWS in 1956. Since that first time, more and more information on Prader-Willi syndrome has begun to be understood (Encyclopedia, 2016). This genetic disease is capable

It is not likely for Swyer Syndrome to be inherited. It can be from non-genetic causes or from new mutations in a gene during the formation of reproductive cells or in the early stages of embryonic development. (2012). “Mutations in the SRY gene have been identified in approximately 15 percent of individuals with Swyer syndrome.” (2016). This gene is located on the Y chromosome, it provides the instructions for making the sex-determining region Y protein. SRY mutation prevents the production of the sex-determining region Y protein or it can result in a non-functioning protein. If the fetus cells’ do no produce a functioning sex-determining region Y protein then they will not develop testes but will develop a uterus and fallopian tubes instead, even though they have a male karyotype

In order to be diagnosed with WS, children will typically see a pediatrician first whether it is in infancy or childhood (American Academy of Pediatrics, 2001). Throughout life and if necessary, the child may need to see several other professionals. Speech-language pathologists will commonly assist the child with their pragmatics and proper interactions with others, while occupational therapists will work on the child’s motor skills. A cardiologist is needed if the child has congenital heart disease, a cardiac murmur, or hypertension. A gastroenterologist can assist if the child has feeding difficulties or constipation. An ophthalmologist can assist if the child turns their eyes inward,

As Elora progresses and continues to grow, her health must be constantly monitored. She should frequently visit an eye care professional, to ensure she does not develop other eye conditions. Visiting a healthcare professional, such as a pediatrician, will also be crucial to helping Elora maintain good health as children who suffer from aniridia can also go on to develop WAGR syndrome. WAGR syndrome is an acronym for a network of diseases that commonly occur together, this network includes Aniridia and a rare kidney cancer called Will’s tumor. Elora will have to adjust to living with her disorder as she

Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), X-linked adrenoleukodystrophy (X-ALD), and infantile Refsum disease (IRD) are the four main peroxisomal disorders classified by the absence, or a defect in, specific peroxisomal proteins. Zellweger syndrome is considered the most severe of the four most studied peroxisomal disorders, causing a faster and earlier death. Lacking or having defective peroxisomal proteins is especially problematic due to the many functions specific to this organelle such as the breakdown of fatty acids, production of lipids for the nervous system and digestion, and functioning in development of the brain. Peroxisomes contain no DNA, causing all of its defects to be mutations of nuclear genes. This is significant because, as we’ll learn later in this class, nuclear genes code for peroxisomal proteins which are synthesized on cytoplasmic ribosomes to later be imported into the peroxisome. Without proper formation, these proteins will not enter the peroxisomes and remain functionless in the cytosol. Some individuals can still have peroxisomes detected in their cells, but they are non-functional--or cannot properly carry out their duties--without the assistance

During the process of meiosis, usually a single pair of chromosomes will have each member inherited from each parent. Sometimes there are situations where a pair of chromosomes will have each member come from just one parent and not the other. This is called uniparental disomy. Uniparental disomy, or UPD, can sometimes cause abnormalities to the individual it occurs in. Some of the syndromes that UPD causes are Prader-Willi syndrome (PWS), Angelman syndrome (AS), and Beckwith-Widemann Syndrome (BWS). These syndromes have a wide variety of characteristics including mental retardation, seizures, and asymmetric body growth. Uniparental disomy has also been discovered as an aid in some diseases, such as cancer and cystic fibrosis, based on similar