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Causes of Wolfram Syndrome

Wolfram syndrome is caused by mutations in the WFS1 gene and is inherited as an autosomal recessive trait. For some time, it was thought that one form of Wolfram syndrome might be caused by changes in the DNA found in the mitochondria of cells. Now, the syndrome is generally thought to be associated with changes in one or more genes on chromosome 4 (4p16.1).

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 4p16.1” refers to band 16.1 on the short arm of chromosome 4. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

All individuals carry a few abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

 

Signs and Symptoms of Wolfram Syndrome

 

Diagnosis of Wolfram Syndrome

Treatment of Wolfram Syndrome

 

 

More Topics

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Type 2 Diabetes Gestational Diabetes
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Preventing complications of Diabetes

 


 

References

http://www.rarediseases.org/rare-diseases/wolfram-syndrome/

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