Study highlights need for CTX screening in Ashkenazi and Sephardi Jewish populations

Sephardi and Ashkenazi Jews could benefit from newborn and carrier screening for cerebrotendinous xanthomatosis (CTX) to enable timely treatment and prevent long-term complications, according to a study that found CTX occurs at high frequency in this population.

The study, which included a systematic review of CTX cases in Jewish individuals and data from the Israeli Medical Genetics Database and gnomAD, identified 3 pathogenic variants of CYP27A1 within the Ashkenazi Jewish population. One of these variants was found exclusively in this group, and the gene carrier rate was estimated at 0.002.

Reference
Hanson J, Bonnen PE. Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews. Mol Genet Metab. 2025;144(3):109041. doi: 10.1016/j.ymgme.2025.109041. Epub ahead of print. PMID: 39874852.