Beckwith-wiedemann syndrome

Inheritance

How is Beckwith-Wiedemann syndrome inherited?

The inheritance of Beckwith-Wiedemann syndrome is complicated due to the fact that there are several ways in which genetic changes can cause this condition. Each of these different genetic changes carries different risks for other family members to inherit Beckwith-Wiedemann syndrome.

About 85% of people with Beckwith-Wiedemann syndrome are the only one in their family with the condition. About 10-15% of people with Beckwith-Wiedemann syndrome inherited the condition from a parent who may or may not be affected themselves. When inherited, Beckwith-Wiedemann follows an autosomal dominant pattern, meaning only one copy of the gene change is needed to cause the condition. In inherited cases, the condition is more likely to be passed if the mother is the one who carries the gene change.

Rarely, in less than 1% of cases, Beckwith-Wiedemann syndrome is caused by a change in the structure of chromosome 11. In some cases, these chromosome changes are inherited from a parent and in others they occur spontaneously.

Speaking with a genetic counselor can help families who have questions about how Beckwith-Wiedemann syndrome is inherited and who in the family is also at risk for the condition. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

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What does it mean to have a "variant" in the gene for Beckwith-Wiedemann syndrome?

I already have one child with Beckwith-Wiedemann syndrome but they're the only one in our family to have the condition, what is the chance that I will have a second child with the condition?

If I have Beckwith-Wiedemann syndrome, what is the chance that I will have a child with the condition?

What does it mean to have a "variant" in the gene for Beckwith-Wiedemann syndrome?

We all have differences in the way our genes are spelled (gene variants). In many cases, these spelling changes do not appear to change the protein that the gene produces and therefore do not seem to lead to any health or developmental problems. Some changes, though, can alter the way a gene works, leading to an abnormal protein product being made. When this happens, a disease can occur. Disease-causing gene changes are known as mutations. There are several genetic changes and mutations that have been identified in genetic regions associated with Beckwith-Wiedemann syndrome that are known to cause the disorder. In other cases, however, a "variant" or "variant of unknown significance" is found in those genetic regions, the effect of which, if any, is unknown.

When a person who is suspected to have Beckwith-Wiedemann syndrome has genetic testing and a variant in one of those genetic regions is found, we can not be sure whether that change is the cause of the symptoms that person has. If the person had enough symptoms to allow for the diagnosis of Beckwith-Wiedemann syndrome to be made clinically, the finding of a variant will likely not lead to the doctor changing or removing the diagnosis. Over time, as more people have genetic testing for Beckwith-Wiedemann syndrome, unclear gene variants may be reclassified as disease-causing if identified in enough affected individuals.

It is also possible that a person with signs of Beckwith-Wiedemann syndrome but with only a variant identified on genetic testing may have a change or changes in other genes that have not yet been identified as being associated with Beckwith-Wiedemann syndrome. Over time, we may identify more genes that cause Beckwith-Wiedemann syndrome, leading to more extensive genetic testing for this condition to be possible.

I already have one child with Beckwith-Wiedemann syndrome but they're the only one in our family to have the condition, what is the chance that I will have a second child with the condition?

When neither the woman nor man in a couple has Beckwith-Wiedemann syndrome but the couple has had one child with Beckwith-Wiedemann syndrome, the chance for them to have another affected child depends on three factors:

  • the specific genetic cause of Beckwith-Wiedemann syndrome in the child
  • whether one of the parents carries the genetic change that led to Beckwith-Wiedemann syndrome in the child
  • if one parent carries the causative gene change, whether it's the mother or father that carries it

If a change in the CDKN1C gene associated with Beckwith-Wiedemann syndrome is the cause of the condition in a child and it has been identified in the mother, then the chance to have another child with the condition may be as high as 50%. If a change in the CDKN1C gene associated with Beckwith-Wiedemann syndrome is the cause of the condition in a child and it has been identified in the father, then the chance to have another child with the condition is increased, with the exact risk not currently known. If neither parent carries the CDKN1C gene change, the risk to have another affected child is very low, but not zero.

If a methylation problem is the cause of Beckwith-Wiedemann syndrome in a child and the mother is found to have a small area of chromosome 11p15.5 deleted or duplicated, then the risk of having another child with the condition may be as high as 50%. If a methylation problem is the cause in a child and the father is found to have a small area of chromosome 11p15.5 deleted or duplicated, then the risk of having another child with the condition is increased, with the exact risk not currently known. If a methylation problem is the cause of Beckwith-Wiedemann syndrome in a child and neither parent is found to have a small area of chromosome 11p15.5 deleted or duplicated, then the risk of having another child with the condition is very low, but not zero.

If paternal uniparental disomy of chromosome 11p15.5 is the cause of Beckwith-Wiedemann syndrome in a child, there is no need to test the parents for carrier status and their recurrence risk is very low.

If a change in chromosome 11p15.5 such as a duplication, inversion or translocation is the cause of Beckwith-Wiedemann syndrome in a child and the mother is found to carry a rearrangement of chromosome 11p15.5, then the risk of having another child with the condition may be as high as 50%. If the father is found to have a small area of chromosome 11p15.5 deleted or duplicated, then the risk of having another child with the condition is increased, with the exact risk not currently known. If neither parent is found to have a rearrangement of chromosome 11p15.5, then the risk of having another child with the condition is very low, but not zero.

Finally, if the cause of Beckwith-Wiedemann syndrome in a child is not known, the chance for the parents to have another affected child is unknown but likely low.

Because of the complexities of determining recurrence risk for couples who have had an offspring with Beckwith-Wiedemann syndrome, it is strongly recommended that such couples schedule an appointment with a genetic counselor. The genetic counselor can review the couple's family history, child's history, and any genetic studies that have been performed. From there, the genetic counselor can determine if there is any additional genetic testing that should be performed on either parent as well as explain the chance for future offspring to be affected with Beckwith-Wiedemann syndrome. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

If I have Beckwith-Wiedemann syndrome, what is the chance that I will have a child with the condition?

If an individual has Beckwith-Wiedemann syndrome caused by either a gain or loss of methylation at imprinting center 1 or 2 (IC1 or IC2, respectively), then the chance of having a child with the condition is relatively low.

If an individual has Beckwith-Wiedemann syndrome due to a change in the CDKN1C gene then the chance of having a child with the condition depends on the affected person's gender. If the affected individual is female, then her chance of having a child with the condition is 50%. If male, then the chance is lower than 50% with the exact risk being unknown.

If an individual has Beckwith-Wiedemann syndrome due having two copies of the paternally inherited chromosome 11 (paternal uniparental disomy), then the chance of having a child with Beckwith-Wiedemann syndrome is likely very low.

If an individual has Beckwith-Wiedemann syndrome due to an imprinting error caused by a small deletion or duplication of chromosome 11p15.5, then the chance to pass on that deletion or duplication would be 50%. Each person needs a normal maternal and paternal copy of this chromosome region. When the maternal copy is abnormal, it leads to Beckwith-Wiedemann syndrome. However, when the paternal copy is abnormal, it leads to a different condition known as Russell-Silver syndrome. Therefore, if a woman has Beckwith-Wiedemann syndrome due to an imprinting error caused by a small deletion or duplication of chromosome 11p15.5, each of her offspring have a 50% risk to have Beckwith-Wiedemann syndrome as well. If a man has Beckwith-Wiedemann syndrome due to an imprinting error caused by a small deletion or duplication of chromosome 11p15.5, each of his offspring have a 50% risk to have Russell-Silver syndrome. To read more about Russell-Silver syndrome, review a reliable resource such as the Genetics Home Reference review on Russell-Silver syndrome.

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