EP206: Novel variant in ARSA associated with late infantile metachromatic leukodystrophy and heterozygote rate in individuals of Ashkenazi Jewish ancestry

Abstract

We present two unrelated children of Ashkenazi Jewish ancestry with late infantile metachromatic leukodystrophy and homozygosity for the novel c.178C>T, p.R60V variant in ARSA (NM_000487.5). We also present the heterozygote rate for this variant in the Ashkenazi population which was found to be 1 in 1821. The rarity of this variant is consistent with the history of consanguinity in each family described below. The heterozygote frequency was calculated based on 32,790 individuals of Jewish descent.