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Article

Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?

European journal of human genetics : EJHG - 1 Jul 2020

Daum Hagit, Meiner Vardiella, Michaelson-Cohen Rachel, Sukenik-Halevy Rivka, Zalcberg Michal Levy, Bar-Ziv Anat, Weiden A Tzvi, Scher Sholem Y, Shohat Mordechai, Zlotogora Joël

Abstract excerpt

The founder variant DHCR7:c.964-1G>C causing autosomal recessive Smith-Lemli-Opitz (SLOS) was introduced into the Israeli preconception carrier program for Ashkenazi Jews in 2017 because of the high carrier frequency in this population (2.3%). Other disease-causing variants in DHCR7 are relatively rare in Israeli population. Discrepancy between the carrier frequency and disease prevalence raises the question of...

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PMID: 32055014
DOI: 10.1038/s41431-020-0577-0
PMCID: PMC7316738

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