P437: Recurrent TRAPPC11 variant in South Dakota’s Hutterite population

Here we presented five cases of LGMDR18 caused by homozygous c.1287+5G>A variants in TRAPPC11. The fact that this same variant has appeared across multiple families with Hutterite ancestry as well as the relatively isolated nature of Hutterite colonies suggest that this could be a founder variant. This is supported by another report of the same TRAPPC11 c.1287+5G>A variant in five patients from two related Hutterite families, one in Canada and one in South Dakota. The Amish, Mennonite, and Hutterite Genetic Disorder database does not currently report LGMDR18 in the Hutterite population.