High carrier frequency for abetalipoproteinemia and evidence of a founder variant in a French-Canadian population.
J Clin Lipidol
; 18(4): e625-e630, 2024.
Article
en En
| MEDLINE
| ID: mdl-38908974
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 1203. 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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Abetalipoproteinemia
/
Proteínas Portadoras
/
Efecto Fundador
Límite:
Adult
/
Female
/
Humans
/
Male
País/Región como asunto:
America do norte
Idioma:
En
Revista:
J Clin Lipidol
Asunto de la revista:
BIOQUIMICA
/
METABOLISMO
Año:
2024
Tipo del documento:
Article