How often does MECP2 duplication syndrome occur?
How often does MECP2 duplication syndrome occur?
The prevalence of MECP2 duplication syndrome is unknown; more than 200 affected individuals have been described in the scientific literature. It is estimated that this condition is responsible for 1 to 2 percent of all cases of intellectual disability caused by changes in the X chromosome.
What causes MECP2 duplication syndrome?
MECP2 duplication syndrome is caused by a genetic abnormality in which a portion of the X chromosome appears two times on one of the X chromosomes (duplication) instead of once. By definition, the affected region always contains the methyl-CpG-binding protein 2 (MECP2) gene.
Is there a cure for duplication syndrome?
Early developmental interventions may be recommended to help affected children reach their potential. This may include physical therapy , speech therapy and/or occupational therapy. Medications may be prescribed to treat seizures or spasticity . Recurrent infections must be treated with appropriate antibiotics .
What does MECP2 mean?
MECP2 (methyl CpG binding protein 2) is a gene that encodes the protein MECP2. MECP2 appears to be essential for the normal function of nerve cells. The protein seems to be particularly important for mature nerve cells, where it is present in high levels.
What diseases are caused by duplication mutations?
Deletions, Duplications, and Disease
| Genetic Disease | Type of Rearrangement | Location Affected |
|---|---|---|
| Charcot-Marie-Tooth disease type I | Duplication | 17p12 |
| Hereditary neuropathy with pressure palsies | Deletion | 17p12 |
| Smith-Magenis syndrome | Deletion | 17p11.2 |
| Williams-Beuren syndrome | Deletion | 7q11.23 |
What is an example of duplication?
If a deletion is a missing ingredient in the recipe, a duplication is an extra ingredient. One example of a rare genetic disorder of duplication is called Pallister-Killian syndrome, where part of the #12 chromosome is duplicated.
What happens during duplication?
Duplication Duplication is a type of mutation that involves the production of one or more copies of a gene or region of a chromosome. Gene and chromosome duplications occur in all organisms, though they are especially prominent among plants. Gene duplication is an important mechanism by which evolution occurs.
What are the effects of chromosome duplication?
Since a very small piece of a chromosome can contain many different genes, the extra genes present in a duplication may cause those genes to not function properly. These “extra instructions” can lead to errors in the development of a baby.
What is the meaning of MECP2 Duplication Syndrome?
MECP2 duplication syndrome occurs when there is an extra copy (duplication) of genetic material that includes the MECP2 gene. The size of the duplication can vary (i.e. additional genes around the MECP2 gene may also be duplicated).
Why are there extra copies of the MECP2 gene?
MECP2 duplication syndrome occurs when there is an extra copy ( duplication) of genetic material that includes the MECP2 gene. The size of the duplication can vary (i.e. additional genes around the MECP2 gene may also be duplicated). However, it is unclear whether extra copies of other genes in this location affect the severity of the syndrome. [3]
How many base pairs are involved in MECP2 Duplication?
The size of the duplication varies from 100,000 to a few million DNA building blocks (base pairs). The MECP2 gene is always included in this duplication, and other genes may also be involved, depending on the size of the duplicated segment.
Is the MECP2 Duplication Foundation a live event?
The MECP2 Duplication Foundation has re-designed the 2021 Gala into an exciting and incredible, “live” virtual event, allowing supporters and viewers from all over the world to participate. We are here to help you. Access information and resources so you can learn more about MECP2 Duplication Syndrome and navigate your child’s care.
https://www.youtube.com/watch?v=OWR1R8eP41c