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Date of last update: 9/9/2017.

Forum Name: Pediatric Topics

Question: Rett syndrome

 jordan*joeysmom - Mon May 10, 2004 10:12 pm

I have a cousin my age, 23, with rett syndrome. Is this a syndrome that "runs in the family"?
 Dr. Tamer Fouad - Tue May 11, 2004 3:57 pm

User avatar Rett syndrome is caused by a mutation in a certain gene called the MECP2 gene. However, mutations in MECP2 are almost always sporadic, that is, they occur spontaneously rather than through heredity. That means that parents rarely pass on the disease to their children. Even if a child does inherit the mutation, however, boys don’t usually get RS. That’s because the father can’t pass it on to them. In order for the fetus to become a boy, the father must pass on a Y chromosome, not an X chromosome. Since the MECP2 gene is located only on the X chromosome, the boy, by virtue of being XY, avoids RS.

No they don't run in families.

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