UBE3A

Angelman Syndrome (AS) is a genetic disorder of the ubiquitin-protein ligase E3A or UBE3A on the 15th chromosome. If this is gene damaged or lacks the maternal allele for UBE3A contributions, it results in Angelman Syndrome (Mary 2011). This disorder was first discovered in 1965 by an English pediatrician known as Dr. Henry Angelman. Angelman studied children with similar motor disorders, facial abnormalities and a happy demeanor. He named this disorder "Happy Puppet Syndrome" after observing a painting by Giovanni Francesco Caroto named “A Boy with a Puppet”. By 1982, researchers at the University of Florida studied this disease more and compared it to Angelman research, renaming it Angelman Syndrome. It was not till 1997, that the cause of it was discovered to be a mutation in the UBE3A gene by Dr. Joseph Wagstaff and Dr. Arthur Beaudet (Tiranoff, 2003).…

portions of chromosomes are missing, helping indicate genetic mutation or disorder.” I elaborated. “Another test—this is just a hunch—would be a UBE3A gene test, which would be an analysis of the UBE3A gene to detect any mutations in the DNA sequence. Judging from Annie’s delayed development and excitable nature it is possible that she may have Angelman’s syndrome. I have previously seen a couple with a child with Angelman's syndrome who showed similar symptoms. A hyperactive and happy demeanor…

Angelman syndrome is a rare genetic disorder that affects around 1 in around 12,000-20,000 live births and affects both males and females equally. Angelman syndrome is very often misdiagnosed as autism or cerebral palsy. Angelman syndrome is not an inherited disease, and is instead caused by a change in the E3 ubiquitin protein ligase gene (UBE3A) on the maternal chromosome 15. This change prevents the chromosome from functioning properly. It occurs as a random event during the formation of eggs…

In 1965 Harry Angelman reported clinical findings in three children with similar, unusual, attributes. These children had what was known as “happy puppet” syndrome, but was later changed to Angelman syndrome, due to its pejorative name. Angelman syndrome is a neurodevelopmental disorder distinguished by: severe learning difficulties, ataxia, jerky movements, epilepsy, speech impairments, hypopigmentation in the hair and the skin with blue eyes, subtle dysmorphic facial features, and happy and…

Usher syndrome is an orphan disease that is extremely common, but is often swept under the rug. It is an inherited disorder that appears in mostly children at a young age and is the most frequent cause of deaf-blindness in humans. It is characterized by hearing impairment that leads to total deafness along with progressive vision loss. There are four levels of Usher Syndrome, Usher Type I, Usher Type II, Usher Type III, and Usher Type IV. Usher Type II is the most common type of Usher Syndrome.…

Some genetic mutations that occur during Meiosis or replication are not passed genetically to offspring. Though there are some genetic disorders that occur during replication or Meiosis that are passed onto offspring not all are. Some non-inheritable disorders are due to random events that occur in reproductive cells. An example of an event in a reproductive cell is the gain or loss of chromosome. All changes in somatic cells however are never heritable. Angelman syndrome is a genetic mutation…

Angel man syndrome is a very unique syndrome. This is a lifetime, short time, syndrome. People with angelman syndrome have issues with balance, movement, seizures, speech impairment, very small head size and sleep. Also kids or adults who are diagnosied with this syndrome, they are all very happy, they laugh a lot, also they all have big bright smiles. The most major cause of this disease is a gene that is missing. A gene called ube3a which is a gene that focuses on targeting proteins. Four…

control of PQC system regulate the processes of growth, adolescence and development. However, ageing related metabolic changes, including various kinds of stresses and successive deterioration of quality control systems may lead to accumulation of several proteins, causing formation of inclusion bodies, which results in late-stage neurodegeneration. Few important established protein candidates, involved in various such diseases have been mentioned at the bottom panel; for details, please refer…

a genetic mutation in chromosome 15. A person without this disorder would get one gene from their mother and one gene from their father. People with Angelman Syndrome, however, only have one of those genes active in parts of the brain, meaning that gene is either severely damaged or completely missing. In some cases, the child inherits two paternal copies of that gene. This is called a parental disomy. There is no known way to actually prevent your child from having Angelman Syndrome, but if…

try to take good nutrition during pregnancy to ensure that the baby gets all the nutrition it needs so there are further less chances of Down’s syndrome. Angelman syndrome Angelman syndrome is a neurodevelopmental disorder. It is characterized by the severe intellectual and developmental disabilities. Furthermore, sleep disturbances, seizers and frequent laughing and smiling are common. The delayed development becomes noticeable by the age of six to twelve months. The other common signs…