What does the MECP2 gene do?
Normal Function The MECP2 gene provides instructions for making a protein called MeCP2. This protein helps regulate gene activity (expression) by modifying chromatin, the complex of DNA and protein that packages DNA into chromosomes.
Is Rett syndrome a deletion?
Rett syndrome (RTT) is an X-linked progressive and severe neurological disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MECP2). Among the 49 typical RTT patients examined, we identified 10 novel and eight known insertion/deletion variants, and 31 known pathogenic variants in MECP2.
How does gene deletion work?
Deletions occur when there is homologous but unequal recombination between gene sequences. Similar sequences in the human genome can cross over during mitosis or meiosis, resulting in a shortened portion of the gene sequence.
What chromosome is MECP2?
The MECP2 gene is located on the long (q) arm of the X chromosome in band 28 (“Xq28”), from base pair 152,808,110 to base pair 152,878,611. MECP2 is an important reader of DNA methylation. Its methyl-CpG-binding (MBD) domain recognizes and binds 5-mC regions. MECP2 is X-linked and subject to X inactivation.
What is Xq28 duplication?
The int22h1/int22h2-mediated Xq28 duplication syndrome is an X-linked intellectual disability syndrome characterized by variable degrees of cognitive impairment (typically more severe in males), a wide spectrum of neurobehavioral abnormalities, and variable facial dysmorphic features.
What is the most likely mode of inheritance for Rett syndrome?
Classic Rett syndrome is most commonly caused by mutations in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person.
What is the effect of deletions?
A deletion changes the DNA sequence by removing at least one nucleotide in a gene. Small deletions remove one or a few nucleotides within a gene, while larger deletions can remove an entire gene or several neighboring genes. The deleted DNA may alter the function of the affected protein or proteins.
Are there any duplications in the MECP2 gene?
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet. 2009 Apr;17 (4):444-53. doi: 10.1038/ejhg.2008.208.
How does the MECP2 gene regulate gene expression?
From Genetics Home Reference. Learn more The MECP2 gene provides instructions for making a protein called MeCP2. This protein helps regulate gene activity (expression) by modifying chromatin, the complex of DNA and protein that packages DNA into chromosomes.
Where is the MECP2 protein found in the body?
The MeCP2 protein is present in cells throughout the body, although it is particularly abundant in brain cells. In the brain, the MeCP2 protein is important for the function of several types of cells, including nerve cells (neurons).
Are there any symptoms of MECP2 Duplication in females?
Most females with a MECP2 duplication generally do not have symptoms, although depression, anxiety, and autistic features have been described in some women with the duplication. Very rarely, females have severe signs and symptoms, similar to those in males with the syndrome.