Causes of Rett Syndrome

Most cases of Rett syndrome are caused by a genetic mutation that affects a gene called MECP2 present on the X chromosome.

This gene codes for the MeCP2 protein, which is essential for the normal development of nerve cells in the brain. Rett syndrome affects one in every 10,000 to 12,500 females by the age of 12 years.

The mutation that causes this condition arises in one of two ways:

  • As a sporadic or “de novo” mutation, meaning it is not inherited and occurs in individuals with no family history of the condition. Almost all cases of Rett syndrome are caused by a sporadic mutation.
  • As a germline mutation inherited from mothers who are phenotypically normal but have a mutation in the MECP2 gene, which is located on the long arm of the X chromosome.

Usually, females have two X chromosomes in each of their cells and males have one X and one Y chromosome. However, only one of the X chromosomes is ever fully functional in a cell, either way.

In females, one of these X chromosomes is mainly inactive during embryonic development and this inactivation occurs randomly. Rett syndrome occurs in cases where one X chromosome with a normal MECP2 gene leads to half a child’s brain cells working properly, while an MECP2 mutation present on the other X chromosome causes the other half of the child’s brain cells to be abnormal and not function properly.

On rare occasions, cases of Rett syndrome are seen in males when the child is born with more than one X chromosome (an XXY configuration), a condition referred to as Klinefelter's syndrome.

Further Reading

Last Updated: Feb 27, 2019

Dr. Ananya Mandal

Written by

Dr. Ananya Mandal

Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.

Citations

Please use one of the following formats to cite this article in your essay, paper or report:

  • APA

    Mandal, Ananya. (2019, February 27). Causes of Rett Syndrome. News-Medical. Retrieved on June 19, 2019 from https://www.news-medical.net/health/Causes-of-Rett-Syndrome.aspx.

  • MLA

    Mandal, Ananya. "Causes of Rett Syndrome". News-Medical. 19 June 2019. <https://www.news-medical.net/health/Causes-of-Rett-Syndrome.aspx>.

  • Chicago

    Mandal, Ananya. "Causes of Rett Syndrome". News-Medical. https://www.news-medical.net/health/Causes-of-Rett-Syndrome.aspx. (accessed June 19, 2019).

  • Harvard

    Mandal, Ananya. 2019. Causes of Rett Syndrome. News-Medical, viewed 19 June 2019, https://www.news-medical.net/health/Causes-of-Rett-Syndrome.aspx.

Comments

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News-Medical.Net.
Post a new comment
Post