Which are the causes of Schinzel Syndrome?

Schinzel syndrome, also known as Schinzel-Giedion syndrome, is a rare genetic disorder that affects multiple systems in the body. It was first described by Schinzel and Giedion in 1978. This syndrome is characterized by a combination of distinct facial features, skeletal abnormalities, severe intellectual disability, and multiple organ malformations. The exact cause of Schinzel syndrome is not yet fully understood, but it is believed to be caused by a specific genetic mutation.

Genetic Mutation: Schinzel syndrome is caused by a mutation in the SETBP1 gene, which is located on chromosome 18. This gene provides instructions for making a protein that plays a role in regulating gene expression and cell growth. The specific mutation in the SETBP1 gene leads to the development of Schinzel syndrome. However, it is important to note that not all individuals with this mutation will develop the syndrome, indicating that other factors may also contribute to the development of the disorder.

Spontaneous Mutation: In most cases, the mutation that causes Schinzel syndrome occurs spontaneously during the formation of reproductive cells or early embryonic development. This means that the mutation is not inherited from the parents and is not present in their genetic makeup. The exact reason why these mutations occur is still unknown.

Genetic Inheritance: In rare cases, Schinzel syndrome can be inherited from an affected parent who carries the SETBP1 mutation. In these cases, there is a 50% chance that each child of an affected parent will inherit the mutation and develop the syndrome. However, it is important to note that the syndrome is extremely rare, and most cases occur due to spontaneous mutations rather than inheritance.

Other Contributing Factors: While the SETBP1 mutation is the primary cause of Schinzel syndrome, other genetic and environmental factors may also play a role in the development and severity of the disorder. These factors are not yet fully understood and require further research to determine their significance.

In conclusion, Schinzel syndrome is primarily caused by a mutation in the SETBP1 gene, which leads to the development of the disorder. This mutation can occur spontaneously or be inherited from an affected parent. However, the exact reasons behind the mutation and other contributing factors are still being investigated.