A familial case of MYH9 gene mutation associated with multiple functional and structural platelet abnormalities ...
Inheritance And Genetics Of Neurofibromatosis Type 1 (NF1)
Neurofibromatosis type 1 (NF1) is a hereditary disorder caused by an alteration – called a mutation – in the NF1 gene, which is located on chromosome 17. The NF1 gene contains a code of instructions for making a protein called neurofibromin, which is produced in many cells, including nerve cells and specialized cells surrounding nerves (Schwann cells). The neurofibromin protein acts as a tumor suppressor, preventing cells from growing and dividing too rapidly. The NF1 gene mutation leads to the production of a nonfunctional or absent neurofibromin protein that is unable to regulate cell growth and division, resulting in the growth of neurofibromas (skin tumors) along nerves throughout the body.
Inherited MutationsAll people have two copies of every gene – one copy inherited from each parent. The NF1 gene mutation is dominant, which means that only one of the two copies of the gene needs to have the mutation to produce the disorder. A parent with NF1 has a 50% chance of passing the abnormal gene copy to a child. A child who inherits the altered gene will also have the disorder.
Spontaneous MutationsWhile half of the cases of NF1 are inherited from a parent, 50% of children diagnosed with NF1 appear to be the first members of their family to have the disorder. In such cases, the genetic alteration, or mutation, occurred in the sperm or egg cell that formed the child. This is called a spontaneous, or new, mutation. A person with a spontaneous mutation of the NF1 gene has a 50% chance of passing the abnormal gene copy to a child.
Determining the Source of the NF MutationIt's important to determine whether the disorder is inherited or is the result of a spontaneous mutation, since an individual with an NF1 mutation has a 50% chance of passing on the disorder every time he or she has a child. One way to accomplish this is by means of a thorough examination of each parent whose child has been diagnosed with NF1 to determine the presence of café-au-lait spots or Lisch nodules in the iris of the eyes. If neither parent is found to have signs of NF1, the child's disorder is most likely the result of a spontaneous, or new, mutation.
Genetic testing is also currently available to confirm the presence of the NF1 gene mutation with 95% sensitivity and may be appropriate in some cases. Some people have features of NF1 that are limited to only one part or one side of their body. This is called mosaic NF1 (also called segmental NF1). Mosaic NF1 is caused by a gene mutation that has arisen after conception, during early development of the person as an embryo. Genetic testing for people with type of NF, while possible, can be more complex than for individuals who do not have this form of the disorder.
What Causes the NF1 Mutation?In cases where a child's NF1 is determined to be the result of a spontaneous mutation, parents often wonder if they did something to cause the mutation, such as exposing their child to radiation, medications, alcohol, or other substances in the environment. It's important to understand that the specific cause of the NF1 gene mutation is currently unknown, and no environmental exposure has been implicated. It's also important to know that genetic mutations are not uncommon. Cells in the body are continuously dividing, and each time they do, a massive volume of genetic information must be copied correctly. Random errors inevitably occur in the copying process and may be the cause of mutations leading to NF1.
Genetic Testing And Genetic Counseling For Neurofibromatosis Type 1 (NF1)
In most cases, a diagnosis of NF1 is made through a clinical diagnosis based on the presence of two or more of the six NIH diagnostic criteria for the disorder. However, sometimes a diagnosis of NF1 can't be made definitively based only on physical signs and symptoms – such as in cases of very young children who have developed café-au-lait spots but no other symptoms.
Advanced Genetic Testing for NF1 at the UAB Medical Genomics LaboratoryIn cases where a clinical diagnosis of NF1 is inconclusive or needs to be confirmed, genetic testing is currently available that can diagnose NF1 with 95% sensitivity by sequencing a person's NF1 gene to identify mutations. The UAB Medical Genomics Laboratory offers the most scientifically reliable, leading-edge genetic testing techniques currently available for the diagnosis and characterization of NF1 mutations. This state-of-the-art laboratory performs the highest volume of neurofibromatosis genetic testing in the world.
What is Legius Syndrome?Legius syndrome was discovered in the past several years. It is characterized by having multiple cafe-au-lait spots, and sometime skin fold freckles, indistinguishable from those that occur in NF1. It is not associated with tumors such as neurofibromas, optic gliomas, or malignant peripheral nerve sheath tumors. It is much less common than NF1, so genetic testing for a child with multiple cafe-au-lait spots begins with NF1 testing. If the NF1 test is negative, though, it may be helpful to test for mutation in the SPRED1 gene responsible for Legius syndrome.Based on a small blood sample from the affected individual, the test provides a full characterization of the NF1 mutation at the genomic DNA level. It's important to understand that while genetic testing can confirm the presence of an NF1 mutation, it can't predict the severity of the disorder. Comprehensive genetic testing for NF1 might be appropriate for the following individuals:
A genetic counselor – who has specialized training in medical genetics and counseling – can help families make informed decisions about whether genetic testing is right for them. The UAB Neurofibromatosis Program provides access to a team of experienced genetic counselors who can help families learn more about genetic testing for NF1 and provide support to assist in adapting to a new diagnosis.
Also, a genetic counselor can provide information and guidance in the following key areas:
A Different Man's Adam Pearson Calls Out Hollywood's Treatment Of Disabilities On Screen
A Different Man's Adam Pearson Calls Out Hollywood's Treatment of Disabilities on ScreenTurn on browser notificationsYou have notifications blockedTurn on browser notificationsYou have notifications blockedTurn on browser notificationsYou have notifications blocked Movies By TooFab Staff1/23/2024 12:04 PM PTAdam Pearson is calling out Hollywood for letting down actors with disabilities and continuing to cast them as stereotypical characters.
The 39-year-old British actor spoke to Variety at the Sundance Film Festival for his film A Different Man, which he stars alongside Sebastian Stan and Renate Rein.
Pearson has neurofibromatosis, a rare genetic condition that causes the skin to develop thousands of thick, non-cancerous tumors; in the film Stan plays a character with the same condition.
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]]>"Normally there are three kinds of roles or tropes or stereotypes, whatever vernacular one wants to use," Pearson told the outlet.
"There's either the villain – that because I have a disfigurement, I want to kill Batman or James Bond. Then there's the victim – the 'woe is me,' small violin," he continued. "And then there's the hero – that because I have a disfigurement but do regular dude stuff, whatever regular dude stuff is, I'm somehow braver than the average guy."
Calling those tropes "lazy writing," he then asked, "Why are non-disabled people writing about disability without consultation? When that happens, the end result ... You might get it right once, but 9 times out 10 it's going to be very inauthentic and inaccurate."
The A24 film tells the story of a man with neurofibromatosis who fakes his death and undergoes facial reconstruction surgery ... Only to audition for a stage play based on his life and see the role go to an actor with the condition, played by Pearson.
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