MECP2 Duplication Syndrome is a genetic disorder caused by the duplication of the MECP2 gene on the X chromosome. It is hereditary and typically inherited from a carrier mother. The syndrome affects mainly males, as they have one X chromosome. Females with the duplication may have milder symptoms due to the presence of a second X chromosome. Genetic counseling is recommended for families with a history of MECP2 Duplication Syndrome.
MECP2 Duplication Syndrome is a rare genetic disorder that primarily affects males. It is caused by the duplication of a specific gene called MECP2, which is located on the X chromosome. This duplication leads to an overproduction of the MECP2 protein, disrupting normal brain development and causing a range of neurological and developmental problems.
MECP2 Duplication Syndrome is hereditary and follows an X-linked pattern of inheritance. This means that the gene mutation responsible for the syndrome is located on the X chromosome, one of the two sex chromosomes. Females have two X chromosomes, while males have one X and one Y chromosome. Since the MECP2 gene is located on the X chromosome, males are more commonly affected by the syndrome.
Typically, MECP2 Duplication Syndrome is inherited from a mother who carries the gene mutation. However, it is important to note that not all carrier mothers will have affected children. In fact, some carrier mothers may not show any symptoms themselves. This is due to a phenomenon called skewed X-inactivation, where one X chromosome is preferentially inactivated in some cells, leading to a milder presentation of the syndrome.
It is recommended that families with a history of MECP2 Duplication Syndrome seek genetic counseling to understand the risks and implications of the syndrome. Genetic testing can be performed to identify carrier mothers and provide information about the likelihood of passing on the syndrome to future children.