Gaucher disease

Inheritance

How does Gaucher disease run in families?

Gaucher disease is inherited in an autosomal recessive fashion, which means both parents must be carriers for Gaucher disease for there to be a chance of having a child with that disease. A carrier is a person who has one working copy of the gene and one copy of the gene that does not work normally. Carriers typically do not show symptoms of the disease or have medical problems associated with being a carrier.

References
  • Gaucher disease. [Internet]. Orphanet [updated April 2011]. Available from: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848.
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Should I have health problems if I am a Gaucher disease carrier?

How many carriers of mutations in GBA are there?

Will all my children have Gaucher disease if I have it?

What is the recurrence risk for Gaucher disease if you have one affected child?

Who else might have Gaucher disease in my family?

When should I have Gaucher carrier testing?

Should I have health problems if I am a Gaucher disease carrier?

Carriers of Gaucher disease are healthy and require no medical treatment. The fact that an individual is a carrier only becomes important if their partner is also a carrier and they have a pregnancy together. In that case, there is a chance (up to 25%, or 1 in 4) that the baby may be born with Gaucher disease.

Gaucher disease is unique. Unlike most autosomal recessive genetic diseases, carriers for Gaucher disease are at increased risk for Parkinson disease.

References
  • Gaucher disease. [Internet]. Gene Reviews [updated May 14. 2015]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1269/
How many carriers of mutations in GBA are there?

It has been estimated that about 1 in 200 people in the general United States population is a carrier for Gaucher disease. The carrier rate is much high in other populations including people of Ashkenazi Jewish heritage in which 1 in 18 individuals are carriers of Gaucher disease.

References
  • National Gaucher Foundation Inc. [Internet] [updated 2016]. Available from: http://www.gaucherdisease.org/
  • GeneReviews Gaucher http://www.ncbi.nlm.nih.gov/books/NBK1269/
  • http://www.gaucherdisease.org/gaucher-disease-prevalence.php
Will all my children have Gaucher disease if I have it?

Only if your partner is also a carrier for Gaucher disease can your children develop the condition. In that case, there is a 50% chance for each of your children to have Gaucher disease. If your partner is not a carrier for Gaucher disease, none of your children will have Gaucher disease.

References
  • Gaucher disease. [Internet]. Genetics Home Reference. [updated September 2014].Available http://ghr.nlm.nih.gov/condition/gaucher-disease
What is the recurrence risk for Gaucher disease if you have one affected child?

A parent of a child with Gaucher disease is assumed to be an obligate carrier for the condition making the chance of each future child born from the same couple 25% for Gaucher disease. Carrier testing is available to confirm this chance.

References
  • National Gaucher Foundation. http://www.gaucherdisease.org/
  • Gaucher disease. [Internet]. Genetics Home Reference. [updated September 2014].Available http://ghr.nlm.nih.gov/condition/gaucher-disease
Who else might have Gaucher disease in my family?

If your child has Gaucher disease, we would assume you to be an obligate carrier for Gaucher disease placing your family members at risk to be carriers for the condition. Testing is available to confirm your carrier status. Once your status has been confirmed, carrier testing can be offered to additional family members to clarify their chance of having a child with Gaucher disease.

References
  • Gaucher disease. [Internet]. Genetics Home Reference. [updated September 2014].Available http://ghr.nlm.nih.gov/condition/gaucher-disease
When should I have Gaucher carrier testing?

You can have the carrier testing at any time, but the best time is before you start a family. Ask your doctor or genetic counselor to give you a test if you are planning a family, or are at the start of pregnancy. Carrier testing for Gaucher disease is usually not recommended for children under 18 years of age, as being a carrier generally does not affect one's health. Your children can decide if they want carrier testing when they become adults or reach reproductive age.

References
  • Gaucher disease. [Internet]. Gene Reviews [updated May 14. 2015]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1269/

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