Search results
Results From The WOW.Com Content Network
If a mutation in the MCCC1 or MCCC2 gene reduces or eliminates the activity of 3-methylcrotonyl-CoA carboxylase, the body is unable to process leucine properly. As a result, toxic byproducts of leucine processing build up to harmful levels, damaging the brain and nervous system .
Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene. It is characterized by lower than average IQ (typically about 85), problematic impulsive behavior (such as pyromania, hypersexuality and violence), sleep disorders and mood swings. [1] [2] It was identified in fourteen males from one family in 1993.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
In genetic counselling, parents are often told that after having a first child with a condition caused by a de novo mutation the risk of a having a second child with the same mutation is 1 – 2%. However, this does not reflect the variation in risk among different families due to genetic mosaicism. A personalised risk assessment can now ...
For example, when individuals suffer from a mutation that causes them to have low levels of serotonin, there is an observed increase in impulsivity and depression [8] With neurotransmitters playing a central role in the development of aggressive behaviour, it follows that many of the gene mutations that have been implicated with aggressive ...
Human somatic variations are somatic mutations (mutations that occur in somatic cells) both at early stages of development and in adult cells. These variations can lead either to pathogenic phenotypes or not, even if their function in healthy conditions is not completely clear yet.
Synonymous mutations occur due to the degenerate nature of the genetic code. If this mutation does not result in any phenotypic effects, then it is called silent, but not all synonymous substitutions are silent. (There can also be silent mutations in nucleotides outside of the coding regions, such as the introns, because the exact nucleotide ...
NEMO deficiency syndrome may present itself as incontinentia pigmenti or ectodermal dysplasia depending on the type of genetic mutation present, such as if the mutation results in the complete loss of gene function or a point mutation. Amorphic genetic mutations in the IKBKG gene, which result in the loss of gene function, typically present ...