Rett Syndrome: A Disorder Primarily Affecting Females, But Still Possible in Males?
In the realm of genetic disorders, Rett Syndrome stands out as a condition that predominantly affects females. This article aims to shed light on the reasons behind the syndrome's rarity in males.
Rett Syndrome, a neurodevelopmental disorder, is more likely to develop in individuals assigned as female at birth due to its genetic transmission being linked with a person's sex. The syndrome occurs in males when a mutation affects the MECP2 gene on their single X chromosome, but it is much rarer in males than in females because this gene is X-linked and males have only one X chromosome.
The key factors explaining the rarity of Rett Syndrome in males are rooted in the X-linked dominant inheritance of the MECP2 gene and the lethal impact such mutations often have in males. Females, with two X chromosomes, can partially compensate for the mutation, allowing survival despite symptoms. Males, however, typically lack this buffering effect, leading to more severe consequences and often early miscarriage or neonatal death.
Moreover, the male lethality and survival bias contribute to the syndrome's rarity in males. Because males have only one X chromosome, an MECP2 mutation can be lethal or cause a more severe phenotype, often leading to miscarriage or death shortly after birth. This reduces the number of surviving males with classic Rett Syndrome.
Phenotypic differences in males also play a role. Some males with MECP2 mutations may present with atypical or more severe neurodevelopmental disorders rather than classic Rett Syndrome. Additionally, MECP2 duplication syndrome, where the gene is duplicated rather than mutated, primarily affects males, showing a different pattern of symptoms.
In summary, the rarity of Rett Syndrome in males is due to the X-linked dominant nature of MECP2 mutations and the lethal impact such mutations often have in males. Females, on the other hand, survive with variable symptoms due to X-chromosome inactivation allowing some functional MECP2 expression.
It's important to note that while Rett Syndrome is more common in females, it can also affect males in rare cases. Males who do live past infancy with Rett Syndrome are most likely due to one of the known genetic mutations.
Rett Syndrome is a rare condition, affecting approximately 1 in 10,000 females in the United States by the age of 12 years old. If cells have an active gene alteration more often than the typical gene, the person's Rett Syndrome symptoms will be more severe. Females with Rett Syndrome usually possess one X chromosome variation and one typical X chromosome.
If males with Rett Syndrome do not have a second X chromosome without the alteration, they will most likely be stillborn or not live past infancy. However, some males with Rett Syndrome do live past infancy, and this is most likely due to one of the known genetic mutations.
The syndrome most often develops due to a mutation in the methyl-CpG binding protein 2 (MECP2) gene, which is on the X chromosome. Understanding the genetic basis of Rett Syndrome is crucial for developing targeted treatments and improving the quality of life for those affected by this condition.
[1] International Rett Syndrome Foundation. (2021). Rett Syndrome. Retrieved from https://www.rettsyndrome.org/
[2] National Organization for Rare Disorders. (2021). Rett Syndrome. Retrieved from https://rarediseases.org/
[3] Genetics Home Reference. (2021). Rett Syndrome. Retrieved from https://ghr.nlm.nih.gov/
[4] Orphanet. (2021). Rett Syndrome. Retrieved from https://www.orpha.net/
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