DYT3 is the only known gene that is associated with X-linked dystonia-parkinsonism (XDP), and a specific mutation is present in essentially all individuals affected by this form. Unlike the vast majority of other dystonias, XDP is inherited in an X-linked manner, meaning that the inheritance pattern depends heavily on gender. A male with XDP passes the mutation on to all of his daughters and none of his sons. A female carrier of the mutation has a 50% chance of passing the mutation onto each child—both girls and boys. Males who inherit the mutation will develop symptoms. Females who inherit the mutation will be carriers and probably never develop symptoms. Carrier testing is available for at-risk females, and prenatal testing and preimplantation genetic diagnosis may be available at select centers
قبل الحادث بشهر 1998
الأربعاء، 13 أكتوبر 2010
X-linked dystonia-parkinsonism gene
DYT3 is the only known gene that is associated with X-linked dystonia-parkinsonism (XDP), and a specific mutation is present in essentially all individuals affected by this form. Unlike the vast majority of other dystonias, XDP is inherited in an X-linked manner, meaning that the inheritance pattern depends heavily on gender. A male with XDP passes the mutation on to all of his daughters and none of his sons. A female carrier of the mutation has a 50% chance of passing the mutation onto each child—both girls and boys. Males who inherit the mutation will develop symptoms. Females who inherit the mutation will be carriers and probably never develop symptoms. Carrier testing is available for at-risk females, and prenatal testing and preimplantation genetic diagnosis may be available at select centers
