%0 Journal Article
%T High carrier frequency for abetalipoproteinemia and evidence of a founder variant in a French-Canadian population.
%A Guay SP
%A Paquette M
%A Girard L
%A Desgagné V
%A Gosse G
%A Poulin V
%A Bouchard L
%A Baass A
%J J Clin Lipidol
%V 0
%N 0
%D 2024 Apr 26
%M 38908974
%F 5.365
%R 10.1016/j.jacl.2024.04.132
%X Abetalipoproteinemia (ABL) is a rare recessive genetic disease caused by bi-allelic pathogenic variants in the microsomal triglyceride transfer protein (MTTP) gene. This disease is characterized by a deficiency in the secretion of apolipoprotein B-containing lipoproteins. Patients with ABL present with neurological, hematological, and gastrointestinal symptoms due to fat malabsorption and a deficiency in liposoluble vitamins. In this report, we present a total of four ABL cases, including three new cases, all originating from the same French-Canadian founder population in Saguenay-Lac-Saint-Jean, Québec, Canada. These individuals are homozygous for the same pathogenic variant in the MTTP gene (c.419dup, p.Asn140Lysfs*2). We found that this variant is more common than anticipated in this population, with an estimated carrier frequency of 1:203. Early diagnosis is essential to initiate treatment known to prevent complications associated with ABL. Population carrier screening or newborn screening for ABL should be considered in this French-Canadian founder population.