Correlation Between Type Of Mecp2 Mutation And The Degree Of Phenotypic Severity

TSC is caused by a genetic mutation in the TSC1 or TSC2 gene. The mutations in these genes cause several lesions in the body to appear. This is caused by the excessive

"Complete Trisomy 13 Syndrome - Conditions - GTR - NCBI." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 17 Mar. 2017.

TSD is common among those of Jewish decent, more specifically Ashkenazi Jews with an origin of Eastern European ancestry. Although these findings have caused TSD to be thought of as a Jewish disease, there have been occurrences in other populations, including French Canadians. There have been three unusual characteristics documented among those affected and being a part of the French Canadian population. One of the characteristics is that TSD patient were highly localized geography and there was a large amount of incidences in Eastern Quebec. The second characteristic is that TSD is caused by two mutant alleles. One of the alleles originating one the northern shore of St. Lawrence and the other on the south shore. The final characteristic is that TSD seems to be recent in its Canadian origin, as the two mutant alleles are not found in France. There have also been high incidences of TSD reported from three other population groups. The three groups can be found in Northern American and include: Louisiana Cajuns, the Dutch community in Pennsylvania, and people that are of Irish

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

. . 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

Within a year of the examination, two of the three children died. A few years later, one of the children’s parents brought a newly born sibling with the same symptoms to Tay’s clinic; leading Tay to believe whatever the disorder was, quite possibly was hereditary (Cowan 133).

Rett Syndrome (RTT) is a rare neurodevelopmental disorder caused by a mutation of a gene found on the X chromosome; it have been thought that RTT was exclusively found in females, but a limited number of males with RTT have been reported (Renieri et al, 2003). Unlike females, who have two X chromosomes, males only have one X-chromosome. Because males lack a "backup" copy of the X chromosome that can compensate for a faulty one, RTT is often fatal to males (Katz et al, 2012). Prior research has shown that a mutation in the methyl CpG binding protein 2 (MeCP2) gene predominantly causes RTT (Forbes-Lorman et al, 2014). The MeCP2 gene holds the information for the production of the protein methyl cytosine binding protein 2 (MeCP2), which is

This disorder mostly presents in female children at a rate of 1:10,000-15,000 births and appears in every race and ethnic group around the world. This disorder rarely manifests in males, but when it does, the child usually does not survive, passing away shortly after birth (ninds). Rett Syndrome is thought to be caused by a mutation on the X chromosome in the MECP2 gene. There are four different types of Rett Syndrome including: typical or classic, early seizure or congenital onset, late onset, and preserved speech. (Rs.org) The diagnosis of either classic/typical RTT or a variant is done by a pediatric neurologist, developmental pediatrician, or a clinical geneticist (ninds) using a RTT Diagnostic Criteria Worksheet. According to Hagberg (2002), a child with classic RTT

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)

Jorde, L. B., Bamshad, M. J., White, R. L. and John C. Carey MD MPH Dr. (2006) Medical genetics updated edition for 2006 – 2007. 3rd edn. United States: Mosby.

Deleterious MED12 Mutation in a Patient with Mitochondrial Dysfunction Expands the Phenotype of FG Syndrome

CMT can be passed down by sex-linked chromosomes or it can be passed down through autosomal inheritance. Either way, CMT is a mutation of proteins required for the peripheral nervous system. If it’s sex-linked it means the disease is carried on the female sex chromosome X, never on the Y male chromosome. If it’s autosomal it means it’s carried in the DNA, on the genetic chromosomes. It can be recessive, needing two pairs of bad alleles, one from each parent, or it could be dominant only needing one allele from either parent. There are cases where people were affected carrying only one recessive allele, like men for instance (MDA, 2017), where males only have one X, if their X chromosome is a faulty one, it could be missing genetic information it needs to keep rebuilding proteins the body requires for reproduction of those crucial proteins. CMT can pop up and affect anyone at any given time in life, you could live with CMT your whole life and never know you have it, or you could find out you’re a carrier for CMT after you’ve passed it on to your offspring (Al-Thihli, K et al. 2012). As you can tell CMT is passed down through inheritance, we are the cause of the continuing cases for CMT, and we still don’t have a cure to treat the prior cases. It seems the disease is only continuing to be carried in more forms as we diagnose more people and disclose more cases (Vallat, Jean-Michel, 2003).

The most common, or correct diagnosis can be made through a blood test(s) to identify the mutation of the MECP2 gene. However, many other diseases or disorders also include MECP2 gene. So this tactic alone is not enough to ensure the presence of Rett Syndrome. With this, some children with rare cases don’t acquire the mutation of MECP2. This makes it even more difficult for doctors to diagnose Rett. A child may have to take therapy or be assisted, but most will be able to participate in school or community

“One example is a gene called RAF1, which influences the growth, movement, and survival of cells. Excess copies of RAF increase the risk of TOF nine-fold. "Just changing the dose of that one gene causes tetralogy of Fallot," Seidman says” (Seidman, 2009). RAF1 is overlapping duplications at the 3p25.1