Rett Syndrome

Five other gene disorder that contributes to autism are (1) "EN2 (Engrailed 2) involved in cerebellum development. (2) GABR (Gamma Amino Butyric Acid Receptor) regulates brain cell migration. (3) OXTR (Oxytocin Receptor) participating in the response to stress and social skills. (4) RELN (Reelin) involved in neuronal migration in the developing brain. (5) SLC6A4, a serotonin transporter gene” (Johnson, Giarelli, Lewis, & Rice, 2013). As a result of all the researches done several chromosomal loci have been shown to be linked to Autistic Spectrum disorder including those at 2q24-2q31, 7q22-7q31, 7q34-7q36, and 17q11-17q21. Structural chromosomal changes involving deletions and duplication at 7q11, 15q11-15q13, 17p11.2, 22q11.2, and 22q13 have also been associated with forms of autism. However, the most common chromosomal abnormalities currently associated with autism include the fragile X mutation, other sex chromosome abnormalities, and abnormalities of 15q11-q13. “Evidence has shown that duplications of 15q11–q13 have led to higher risks of Autism Spectrum Disorder and developmental and cognitive deficits” (Flashner, Russo, Boileau, Leong, & Gallicano, 2013). Chromosome 15q11-q13.1 region is subject to genomic imprinting, which is an epigenetic process that results in monoallelic gene expression. Duplications lead to autism and are usually maternal in origin. Deletion of the maternal allele of chromosome 15q11-q13 cause Angelman syndrome (AS) a neurodevelopmental disorder

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

Rett syndrome (RTT) is a rare random brain & nervous system disorder that only affects girls due to it being an X-linked mutation and although it is genetic, it is not hereditary; it rarely affects boys, when it does the symptoms are more severe and the “babies rarely live past birth” (Bhandari, 2017). The babies usually go through a normal pregnancy and start to show symptoms after the first six months; they become more prominent at “12 and 18 months, and they can be sudden or progress slowly.” (Bhandari, 2017). Symptoms include “slowed growth, trouble with breathing, no language skills, problems with hand movements, muscles, and coordination” (Bhandari, 2017). There is no cure, but the best available treatments include “standard medical care

Approximately 1 in every 10,000 infants in the United States is affected with Rett syndrome (RTT), an X-linked neurodevelopmental disease. (Jin, Chen, & Xiao, 2017). Nearly all RTT patients are girls as the mutation on the male’s single X-chromosome tends to be prenatally lethal. The disorder was first described by Andreas Rett in 1966 and is characterized by apparent normal development for the first six to eighteen months of life, followed by the loss of intellectual functioning, acquired fine and gross motor skills, and the ability to engage in social interaction (Krishnan, Krishnan, Connors, Choy, Page, Peti, Van Aiest, Shea, & Tonks, 2015). Other clinical manifestations include seizures, disturbed breathing patterns with periodic

The MECP2 gene contains instructions for the synthesis of a protein called methyl cytosine, combining protein two (MECP2) , which affects brain development and acts as a biochemical switch to increase gene expression or tell other genes to turn off and stop producing their own unique protein. Not everyone who has a MECP2 mutation has Rett Syndrome. Scientist have identified mutations in the CDKL5 and FOXG1 genes in individuals as atypical or congenital Rett Syndrome. In some families of individuals affected by Rett Syndrome, there are other female family members who have the mutation of the MECP2 gene but do not show clinical symptoms. The females are known as “asymptomatic female

This gene is believed to be able to control the function of several other genes. This wasn’t discovered until 1999. The MECP2 gene is believed to contain instructions for the synthesis of a protein called methyl cytosine binding protein 2. This protein is responsible for the development of the brain and acts as one of the many biochemical switches. This can either increase gene expression or it can tell other genes to turn off and stop production of their own unique routine. Since the gene doesn’t function properly with those who have Rett Syndrome, they have an insufficient amount or structurally abnormal forms of proteins produced. This can cause other genes to be abnormally

With an abnormal number of repeats the trinucleotide sequence becomes more unstable and disease symptoms grow to be more visible. Myotonic dystrophy II (DM2) is a mutation of cellular nucleic acid binding protein (CNBP), or zinc finger protein 9. The functions of both proteins, CNBP and DMPK are uncertain, however they can be found in multiple organs and tissues in the body, including the brain, cardiac, and skeletal muscles (Ueada, Ohno & Kobayashi, 2000). Myotonic dystrophy is located on chromosome 19q13.3 and is a result of an abnormal repeat of the DNA sequence. According to Mckusick & Hartz (1986) People with DM2 can have from 75 to more than 11,000 CCTG repeats. Both DM1 and DM2 are autosomal dominant inheritable disease, which can be passed along to offspring if the parent is affected, at a 50% probability. Myotonic dystrophy is unique from most provided that “disease-causing alleles may expand in length during gametogenesis, resulting in the transmission of longer trinucleotide repeat alleles that may be associated with earlier onset and more severe disease than that observed in the parent” (Bird et al., 1999).

Metatropic dysplasia, also known as metatropic dwarfism is a very rare disease in humans that is often deadly and identifiable after birth or into the infant stages of a baby. It has been discussed that MTD is in part caused by mutations in the TRVP4 gene. This is located at 12q24.1 which is the long (q) arm of chromosome 12 at position 24.1, base pairs 109,784,087 to 109,833,407. There have been approximately 81 cases reported so far with odds of 1/1,000,000. A few cases have been severe to the point of endangering the mother’s life. This type of dwarfism affects the human skeleton in such a way that affects normal growth. Body proportions are abnormal, and a child will have unusual features such as shorter limbs, a narrow chest, and bones that have not developed correctly. Several facial deformities

The journal articles main focus was to “discus the history, incidence, pathophysiology, diagnostic criteria, disease staging, clinical presentation and physical exam findings, and role of the primary care provider (PCP) as they pertain to care for a child with Rett syndrome (RS). (Briggs, A. 2014) The article begins with Briggs brief introduction to Dr. Andrea Rett, who “observed two females in the waiting room exhibiting similar types of behavior and researched whether or not this pathology has been described” (as cited in Rett,1986). Her discovery would later be named after her. Briggs states that RS is found in 1 of every 8,000-10,000 females and a very small percentage of males (as cited in Saunders, Mainassian, Chow, Zhao & Vincent, 2008).

For example, gene 3p22 would be located on chromosome 2, P-arm, and the 22nd region of the dark/light bands on the P-arm. Mutations on genes GNPTAB (12q23.2), GNPTG (16p13.3), and NAGPA (16p13.3) may cause about 10 percent of cases of stuttering. These three genes are involved in the breakdown and recycling of cellular components in the brain. In addition to the previously mentioned genes, DRD2 (11q23.2) and AP4E1 (15q21.2) may also contribute to stuttering behaviors. A DRD2 mutation causes myoclonus dystonia, which is relative to Tourette Syndrome—individuals with Tourette Syndrome exhibit many stuttering-like behaviors. Additionally, AP4E1disruption may be associated with Cerebral Palsy—individuals with congenital disorders like Cerebral Palsy have higher degrees of stuttering than individuals without congenital

Hydrocephaly-MASA Spectrum is the most common XLID syndrome with a structural malformation of the central nervous system. Isolation of mutations in L1CAM has allowed inclusion of four entities that were previously thought to be separate entities in the spectrum; these include X-linked hydrocephaly, MASA syndrome, XLID-clasp thumb and complicated spastic paraplegia (Stevenson RE., 2013). Hypotonia is usually present initially and replaced by spasticity in the late childhood. Interestingly, the degree of intellectual development of these individuals appears to be correlated with the severity of hydrocephaly.

Due to great progress in genetic testing during the last decade, there is an increasing awareness of congenital heart diseases that give a higher risk of sudden cardiac death (SCD). A good example of such heart disease is the congenital Long QT Syndrome (LQTS). This disorder is a leading cause of SCD in the non-adult population.1 Ion channels responsible for the ventricular repolarization are mutated, causing a prolongation of the QT-interval on ECG.2 This aberrant repolarization of the heart gives a risk of the occurrence of ventricular arrhythmias, called torsades de pointes. These arrhythmias are mainly precipitated by emotional or physical stress2 and cause symptoms such as syncope or cardiac arrest.

I would always see a genetic counselor. Perhaps other people won’t seek counseling, because they are afraid that they may separate from their loves one. However, true loves require us to seek good for others and avoid anything that could hurt them.

It wasn’t until around third grade that I realized she was different. My best friend, Emily, whom I had known since I was five years old, had Turner Syndrome. We had multiple interests in common: we loved High School Musical, Wii games, and Harry Potter. Since I had known her for so long, I was accustomed to her unique personality and habits. However, our elementary school playground was often the most accessible for peers to spew judgemental remarks. Classmates loved to evoke any emotion out of Emily, from pure frustration to fear. She was an easy target, and I knew that it was my job to protect her at all costs. Being so young, I was unable to understand why others chose to tease her; she seemed to be remarkably similar to me. Even so, I

Thrombocytopenia with absent radius (TAR) syndrome is a rare genetic disorder within the human body. TAR syndrome is defined by an absence of the radius in both forearms. This disorder comes with a range of debilitating effects. Many children diagnosed do not survive infancy.