{Reference Type}: Journal Article
{Title}: High carrier frequency for abetalipoproteinemia and evidence of a founder variant in a French-Canadian population.
{Author}: Guay SP;Paquette M;Girard L;Desgagné V;Gosse G;Poulin V;Bouchard L;Baass A;
{Journal}: J Clin Lipidol
{Volume}: 0
{Issue}: 0
{Year}: 2024 Apr 26
{Factor}: 5.365
{DOI}: 10.1016/j.jacl.2024.04.132
{Abstract}: 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.