Saturday, April 11, 2009

New mutations

New mutations are rare in autosomal recessive disorders and it
can generally be assumed that both parents of an affected child
are carriers. New mutations have occasionally been documented
and occur in about 1% of SMA type I cases, where a child
inherits a mutation from one carrier parent with a new mutation
arising in the gene inherited from the other, non-carrier parent.
Recurrence risks for future siblings is therefore very low.

No comments:

Post a Comment