Screening for familial dysautonomia will begin soonBMJ 2001; 322 doi: https://doi.org/10.1136/bmj.322.7282.319/a (Published 10 February 2001) Cite this as: BMJ 2001;322:319
- Judy Siegel-Itzkovich
Mass screening tests for familial dysautonomia, a degenerative, fatal, and incurable neurological disorder that affects only people of Ashkenazi Jewish origin, will begin soon in Israel and the United States.
This development follows the Israeli and US discovery of the mutant recessive gene responsible for familial dysautonomia, which is as common as the better known Tay-Sachs disease, which also particularly affects Ashkenazi Jews. Two single base pair mutations in this gene account for nearly all cases of familial dysautonomia, and the finding is expected to revolutionise genetic testing for the condition.
The responsible gene, IKBKAP (inhibitor of kapelite polypeptide gene enhancer in β cell complex associated kinase protein), encodes for the IKAP protein (inhibitor of …