Williams-Beuren Syndrome

Noonan syndrome is a disorder caused by a genetic mutation that causes various parts of the patient’s body to develop abnormally. The condition occurs when a parent passes on an affected gene to their child that produces constantly active proteins, leading to a disruption in the process of normal cell division and growth. Science currently knows of eight genes in which a mutation can cause the disorder. In some cases, there is no family history and the mutation is spontaneous.

"Williams Syndrome - Genetics Home Reference." U.S. National Library of Medicine. National Institutes of Health, 212 Mar. 2017. Web. 21 Mar.

mother could have a Down Syndrome baby even though there was never any sign of

Prader-Willi and Angelman Syndrome are two genetic disorders with vastly differing phenotypes linked by missing genetic imprints on the 15th chromosome’s q arm between regions 11 and 13 . While both orders result in mental deficits, their symptoms are otherwise segregated from the other in their entirety. The differences in the disorders are the result of differing DNA methylation patterns present in maternally and paternally inherited DNA. If the deletion occurs in the mother’s DNA, then Prader-Willi Syndrome appears. When the deletion occurs in the father’s DNA, Angelman Syndrome is the result.

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

Origination of PWS can appear in four different scenarios as described by Maas et al. (2010): “a paternal deletion (70%), a maternal uniparental disomy (mUPD) (25%), an imprinting centre defect (<5%) or an unbalanced chromosomal translocation (<1%)” (Ledbetter et al. 1981; Nicholls et al. 1989; Buiting et al. 1995; Horsthemke & Buiting 2006; Goldstone et al. 2008; Cassidy & Driscoll 2009) (p. 906). Psychiatric issues commonly known to PWS differ in significance dependent on the origin of the parental chromosome; mUPD or paternal deletion. Differences in behavioral profiles have also been suggested for the different genotypes (Sinnema et al. 2011). As cited in Dykens & Roof (2008), “Relative to persons with paternal deletions, those with UPD generally have better-developed expressive language (Roof et al., 2000; Wittington et al., 2004), but somewhat poorer visual memory and puzzle-solving skills” (Dykens, 2002; Verdine, Troseth, Hodapp, & Dykens, in press). The mUPD presents with a “heightened vulnerability for psychiatric disorders, such as atypical psychosis and affective disorders in young adulthood” (Beardsmore et al., 1998: Boer et al., 2002: Vogels, Matthijs, Legius, Devriendt, & Fryns, 2003., as cited in Sinnema et al. 2011, p. 605).

Med. Genet 2009. 46, 825–833; Cardoso, C., Leventer, R.J., Ward, H.L., Toyo-Oka, K., Chung, J., Gross, A., Martin, C.L., Allanson, J., Pilz, D.T., Olney, A.H., et al. (2003). Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am. J. Hum. Genet. 72, 918–930). MDS is caused by a heterozygous deletion of chromosome 17p13.3, involving several genes including PAFH1B1 and YWHAE coding for LIS1 and 14-3-3 proteins, respectively. This deletion induces malformations during cortical development (Dobyns, W.B., Stratton, R.F., Parke, J.T., Greenberg, F., Nussbaum, R.L., and Ledbetter, D.H. (1983). Miller-Dieker syndrome: Lissencephaly and monosomy 17p. J. Pedod. 102, 552–558; Chong, S.S., Pack, S.D., Roschke, A.V., Tanigami, A., Carrozzo, R., Smith, A.C.M., Dobyns, W.B., and Ledbetter, D.H. (1997). A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum.

Genetic disorder has many diagnostic and common names for example, DMD is also known as Duchenne muscular dystrophy or Becker and pseudohypertrophic muscular dystrophy. DMD is a genetic disease that occurs mostly in boys. According to the “Muscular Dystrophy Association DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. The male host inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. The female host inherits two X chromosomes, one from each parent.” (MDM). “The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, containing the (CGG) in repeat expansion in the FMR1 gene is associated with fragile X syndrome stated in the article, “A Family with Fragile X Syndrome, Duchenne Muscular Dystrophy and Ichthyosis Transmitted By An Asymptomatic Carrier”(Todorova, A)

In the Article Common Genetic Disease Linked to Father’s Age scientist from the University of Southern California observed new cases involving the Noonan Syndrome. In their study, they noticed that more cases of this disease are becoming more common in older men. Noonan Syndrome, formally heard of as the Turner-like Syndrome is a genetic mutation that affects many areas of the body. According to the article, “The disease can cause facial abnormalities, short stature, heart defects, intellectual disability and sometimes blood cancers.” More importantly, What is the cause of this disease? And, Why is it becoming more common? In some cases, an affected person inherits the mutation from its parent. However, scientist have found that in other

Noonan Syndrome (autosomal dominant condition) is a fairly common disease, affecting 1 in every 1,000-2,500 people. It is a genetic disorder that causes mutations in the PTPN11, SOS1, RAF1, KRAS, NRAS and BRAF genes. The most common mutation is in the PTPN11 gene, accounting for 50% of the Noonan cases. Even though it is a genetic disorder, 1 in 5 people diagnosed will have no known cause for their disorder (GHR,

The first diagnosis of Noonan syndrome was in 1883 by means of Kobylinski. The patient was a 20-year old man with a neck that was webbed; webbing is one of the main symptoms of Noonan syndrome. In 1902 Funke saw a patient with a webbed neck and also micrognathia (undersized jaw), cubitus valgus (elbow deformity), short stature, and also other abnormalities. Another case by means of Ullrich decades later in 1930 of a young girl who had similar deformailites. In 1994 Noonan syndrome was gene mapped to the long arm (q arm) on chromosome 12. It was given the same NS1. Tartaglia found a mutation was found in the protein tyrosine phosphatase (PTPN11) in 2001; the first molecular cause of Noonan syndrome. It’s found that the PTPN11 mutation will cause

Williams Syndrome is a rare disease that is caused by deletion of certain genes in chromosome 7 during the formation of reproductive cells. It is known as an autosomal dominant condition because one copy of the altered chromosome 7 is all that is needed to cause Williams Syndrome. While it can be inherited from a parent who already has the disease, it can also randomly occur in anyone. It causes some medical problems along with physical abnormalities, mental capacities, and personality characteristics. This rare disease affects 1 in 7,500-10,000 people. An estimated 20,000-30,000 people in the United States currently have been diagnosed with Williams Syndrome. There is no specific gender that Williams Syndrome, it occurs equally in both of

There are so many types of diseases and disorders in this world. Some can lead to a lifetime of pain and others can lead to mortality. Robinow syndrome is a disorder that affects few people. This rare disorder is inherited to the fetus by the parents. This disorder comes in dominant form and recessive form. In dominant form you inherit the gene from only one of the parents. In recessive form you inherit the gene from both parents. In the recessive form the syndrome comes from mutations in the ROR2 gene. In the dominant form the syndrome is caused by the mutations in the WNT5A or DVL1 gene. The genes affect the development of the patient in its first years. Robinow syndrome affects both male and females. They have

This condition is a rare chromosomal disorder in which the genes on chromosome 15 are either unexpressed or deleted.

Prader-Willi Syndrome (PWS) first was recognized in 1956 by three Swiss doctors, Andrea Prader, Alexis Labhart, and Heinrich Willi. PWS is a genetic disorder that is present at birth and causes many different cognitive, physical, and behavioral problems. This is a result of an abnormality of chromosome 15, which is one of the most complex regions of the human DNA system. This disorder affects about one out of every fifteen thousand births in both males and females. It doesn’t particularly reach to one race or another, but rather can affect everyone. Symptoms for PWS vary based on the severity of a particular individual.