Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Albright syndrome
  • Albright's disease
  • MAS
  • PFD
  • POFD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.


Your Question

Is McCune-Albright syndrome picked up by amniocentesis? I had an amniocentesis with my daughter and nobody told me she had it.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes McCune Albright syndrome?

McCune Albright syndrome (MAS) is caused by a change (mutation) in the GNAS gene. This gene provides instructions for making part of a protein that ultimately influences many cell functions by regulating hormone activity. GNAS gene mutations that cause MAS result in a protein that causes the enzyme adenylate cyclase to be constantly turned on. This, in turn, leads to over-production of several hormones, resulting in the signs and symptoms of MAS.[1]
Last updated: 1/2/2014

Is McCune Albright syndrome inherited?

McCune Albright syndrome (MAS) is not inherited. It is caused by a random change (mutation) in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism.[1][2] The severity of this disorder and its specific features depend on the number and location of cells that have the mutated GNAS gene.[1] This mutation is not passed on to any of the affected individual's children.[2]
Last updated: 12/26/2013

Can McCune-Albright syndrome be found through amniocentesis?

An amniocentesis is a test during pregnancy that removes a small amount of fluid from the sac around the baby (called the amniotic sac) to look for birth defects and chromosome problems.[3] This test usually looks for chromosome problems in the baby including Down syndrome, Trisomy 13, and Trisomy 18. This test also looks for neural tube defects in the fetus such as spina bifida.[3]

An amniocentesis can only be used to diagnose other genetic conditions during pregnancy if a fetus is suspected to have a particular genetic condition, usually based on abnormal ultrasound or family history. Because McCune-Albright syndrome occurs in people without a family history of the condition, an amniocentesis will not detect it. We recommend that you speak with a genetics professional for additional information about testing for this condition.

GeneTests lists the names of laboratories that are performing genetic testing for McCune-Albright syndrome. To view the contact information for the clinical laboratories, conducting testing click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 6/6/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013

References