The following page provides basic information about the field of genetics as it relates to Familial Dysautonomia. We address how FD is inherited, the discovery of the FD gene, and the availability of genetic testing.
How Familial Dysautonomia Is Inherited
Familial Dysautonomia is a
genetic condition that occurs almost exclusively among people of Eastern
European (Ashkenazi) Jewish descent. In this population it is estimated that one
in 27 individuals is a carrier of the FD gene. FD is transmitted in a recessive gene fashion.
Discovery of the FD Gene
In 1993 the FD gene was localized to the long arm of chromosome 9 (9q31) and flanking genetic markers (benign variants of DNA) were discovered. This information made possible prenatal diagnosis and carrier genetic testing for people with a family history of FD or whose spouses had a history.
In 2001, the FD gene was identified as IKBKAP. Two mutations in this gene can cause FD.
Genetic Testing Information and Locations
is prenatal diagnosis done?
Foundation's designated genetic counseling center is at NYU School of Medicine.
Israelis may receive genetic counseling at Hadassah Medical Center.
|copyright (c) 2004, Dysautonomia Foundation, Inc.||last modified 2/19/04|