In Autosomal Dominant Inheritance Jsp Id N
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In Autosomal Dominant Inheritance Jsp Id N
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Genes are the blueprints for making proteins. Our bodies need proteins to develop
and work properly. Most genes come in pairs. One is inherited from the mother and
the other from the father. Genes inherited from our biological parents are expressed
in specific ways. One of these basic patterns is called autosomal dominant inheritance.
Sex chromosomes, which determine male or female gender
Autosomes, which are all of the other chromosomes (chromosome pairs 1 through 22)
or nonsex chromosomes
Autosomal inheritance of a gene means that the gene is located on one of the autosomes.
This means that males and females are equally likely to inherit the gene. "Dominant"
means that a single copy of the gene can cause a particular trait, such as brown eyes
instead of blue eyes. When a parent has a dominant gene, there is at least a 50% chance
that any child they have will also have the trait.
There are 4 possible combinations in the children (see figure). These combinations
are possible every time a pregnancy occurs between these 2 individuals. The gender
of the children (whether they are sons or daughters) does not matter. The chance is
50/50 for them to inherit the autosomal genes.
A characteristic of some dominant genes is that they can have variable expression. This
means that some people have milder or more intense characteristics than others. Another
important characteristic of dominant genes is that, in some cases, they can have reduced
penetrance. This means that sometimes a person can have a dominant gene copy but not
show any signs of the gene. The concept of reduced penetrance is particularly important
in the case of autosomal dominant cancer susceptibility genes. If a person has inherited
a cancer susceptibility gene, it does not mean they will automatically develop cancer.
It simply means that the person has inherited a mutation in a gene that gives them
a higher chance to develop cancer than someone without the mutation.
Examples of conditions involving autosomal dominant inheritance are:
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Vestibular schwannoma (acoustic neuroma) and neurofibromatosis. National Institute on Deafness and Other Communication Disorders. http://www.nidcd.nih.gov/health/hearing/pages/acoustic_neuroma.aspx. Accessed July 30, 2020.
Common balance disorders and more. American Hearing Research Foundation. https://www.american-hearing.org/disease/common-balance-disorders/. Accessed July 30, 2020.
AskMayoExpert. Vestibular schwannoma. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2019.
Park JK, et al. Vestibular schwannoma (acoustic neuroma). https://www.uptodate.com/contents/search. Accessed July 30, 2020.
Ferri FF. Acoustic neuroma. In: Ferri's Clinical Advisor 2021. Elsevier, 2021. https://www.clinicalkey.com. Accessed July 30, 2021.
Lalwani AK, ed. Vestibular schwannomas. In: Current Diagnosis & Treatment in Otolaryngology — Head & Neck Surgery. 4th ed. McGraw-Hill; 2020. https://accessmedicine.mhmedical.com. Accessed July 30, 2020.
Gamma Knife. Radiological Society of North America. https://www.radiologyinfo.org/en/info.cfm?pg=gamma_knife. Accessed July 30, 2020.
Side effects. Acoustic Neuroma Association. https://www.anausa.org/learn-about-acoustic-neuroma/side-effects-of-an-acoustic-neuroma. Accessed July 31, 2020.
Support group overview. Acoustic Neuroma Association. https://www.anausa.org/support-group-overview. Accessed Nov. 22, 2014.
Riggin EA Allscripts EPSi. Mayo Clinic, Rochester, Minn. July 31, 2020.
Louis ED, et al., eds. Acoustic neuroma and other skull base tumors. In: Merritt's Neurology. 13th ed. Wolters Kluwer; 2016. http://www.ovid.com/site/index.jsp. Accessed July 30, 2020.
Proton therapy. American Brain Tumor Association. https://www.abta.org/publications/proton-therapy/. Accessed July 31, 2020.
Carabenciov ID (expert opinion). Mayo Clinic. March 31, 2021.
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An acoustic neuroma (vestibular schwannoma) is a benign tumor that develops on the balance (vestibular) and hearing, or auditory (cochlear) nerves leading from your inner ear to the brain, as shown in the top image. The pressure on the nerve from the tumor may cause hearing loss and imbalance. In some cases, the tumor may grow and affect the cerebellum or other brain tissues, as shown in the magnetic resonance imaging (MRI) scan and illustrations above.
Acoustic neuroma, also known as vestibular schwannoma, is a noncancerous and usually slow-growing tumor that develops on the main (vestibular) nerve leading from your inner ear to your brain. Branches of this nerve directly influence your balance and hearing, and pressure from an acoustic neuroma can cause hearing loss, ringing in your ear and unsteadiness.
Acoustic neuroma usually arises from the Schwann cells covering this nerve and grows slowly or not at all. Rarely, it may grow rapidly and become large enough to press against the brain and interfere with vital functions.
Treatments for acoustic neuroma include regular monitoring, radiation and surgical removal.
Signs and symptoms of acoustic neuroma are often easy to miss and may take many years to develop. They usually happen because of the tumor's effects on the hearing and balance nerves. Pressure from the tumor on nearby nerves controlling facial muscles and sensation (facial and trigeminal nerves), nearby blood vessels, or brain structures may also cause problems.
As the tumor grows, it may cause more noticeable or severe signs and symptoms.
Common signs and symptoms of acoustic neuroma include:
In rare cases, an acoustic neuroma may grow large enough to compress the brainstem and become life-threatening.
See your doctor if you notice hearing loss in one ear, ringing in your ear or trouble with your balance.
Early diagnosis of an acoustic neuroma may help keep the tumor from growing large enough to cause serious consequences, such as total hearing loss.
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The cause of acoustic neuromas can be linked to a problem with a gene on chromosome 22. Normally, this gene produces a tumor suppressor protein that helps control the growth of Schwann cells covering the nerves.
Experts don't know what causes this problem with the gene. In most cases of acoustic neuroma, there is no known cause. This faulty gene is also inherited in neurofibromatosis type 2, a rare disorder that usually involves the growth of tumors on the hearing and balance nerves on both sides of your head (bilateral vestibular schwannomas).
In an autosomal dominant disorder, the altered gene is a dominant gene located on one of the nonsex chromosomes (autosomes). You need only one altered gene to be affected by this type of disorder. A person with an autosomal dominant disorder — in this case, the father — has a 50% chance of having an affected child with one altered gene (dominant gene) and a 50% chance of having an unaffected child with two typical genes (recessive genes).
The only confirmed risk factor for acoustic neuroma is having a parent with the rare genetic disorder neurofibromatosis type 2. However, neurofibromatosis type 2 only accounts for about 5% of acoustic neuroma cases.
A hallmark characteristic of neurofibromatosis type 2 is the development of noncancerous tumors on the hearing and balance nerves on both sides of the head, as well as on other nerves.
Neurofibromatosis type 2 (NF2) is known as an autosomal dominant disorder, meaning that the mutation can be passed on by just one parent (dominant gene). Each child of an affected parent has a 50-50 chance of inheriting it.
An acoustic neuroma may cause a variety of permanent complications, including:
Large tumors may press on your brainstem, preventing the normal flow of fluid between your brain and spinal cord (cerebrospinal fluid). In this case, fluid can build up in your head (hydrocephalus), increasing the pressure inside your skull.
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Journal of Neurology
volume 262 , pages 2684–2690 ( 2015 ) Cite this article
KIF1A gene encodes the kinesin 1a protein, an axonal motor protein working in cargo transport along neurites. Variants in KIF1A were identified in different forms of neurodegenerative diseases with dominant and recessive inheritance. Homozygous recessive mutations were found in the hereditary sensory and autonomic neuropathy type 2, HSAN2 and in a recessive subtype of hereditary spastic paraparesis, SPG30. De novo heterozygous dominant variants were found both in a dominant form of SPG30 (AD-SPG30) with one single family reported and in patients with different forms of progressive neurodegenerative diseases. We report the results of a genetic screening of 192 HSP patients, with the identification of four heterozygous variants in KIF1A in four cases, two of whom with family history for the disease. Three of the four variants fall within the motor domain, a frequent target for variants related to the AD-SPG30 subtype. The fourth variant falls downstream the motor domain in a region lacking any functional domain. The KIF1A -related patients show clinical pictures overlapping the known AD-SPG30 phenotype including pure and complicated forms with few differences. Of note, one of the families, originating from the Sicily island, carries the same variant p.S69L detected in the first AD-SPG30 family of Finnish origin reported; differently from the first one, the latter family shows a wide intra-familial phenotype variability. Overall, these data reveal a very low frequency of the AD-SPG30 subtype while confirming the presence of amino acid residues in the motor domain representing preferential targets for mutations, thereby supporting their functional relevance in kinesin 1a activity.
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