title: The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians.
abstract: Abetalipoproteinemia (ABL) is a rare autosomal recessive disease characterised by the absence of apolipoprotein B (apoB) containing lipoproteins and, in consequence, very low triglyceride and cholesterol levels. Microsomal triglyceride transfer protein (MTP) has been associated with ABL. A search for sequence variants in the large subunit of MTP in a kindred of 10 individuals from Saguenay-Lac-St Jean area with a propositus exhibiting ABL as well as in four independent patients from the greater Quebec city area and exhibiting very low apoB and LDL-cholesterol levels identified 12 variations. Only one sequence variation, the c.419-420insA, was observed, in the homozygous form, in the abetalipoproteinemic patient. The -493G/-400A/-164T/282G/383T/419-420insA/453T/891C/969T/1151A/2884G haplotype carries the insertion and was found in all members of the family studied. In conclusion, the present study showed that the c.419-420insA alone, in the homozygous form, is a cause of classical recessive inherited ABL in the French-Canadian population.
authors.affiliation: Lipid Research Center, CHUL Research Center, Sainte-Foy, Québec, Canada
authors.forename: Marie-Thérèse
authors.initials: MT
authors.lastname: Berthier
authors.forename: Patrick
authors.initials: P
authors.lastname: Couture
authors.forename: Alain
authors.initials: A
authors.lastname: Houde
authors.forename: Ann-Marie
authors.initials: AM
authors.lastname: Paradis
authors.forename: Alya'a
authors.initials: A
authors.lastname: Sammak
authors.forename: Andrei
authors.initials: A
authors.lastname: Verner
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Deprés
authors.forename: Claude
authors.initials: C
authors.lastname: Gagné
authors.forename: Daniel
authors.initials: D
authors.lastname: Gaudet
authors.forename: Marie-Claude
authors.initials: MC
authors.lastname: Vohl
mesh_terms: D000012:Abetalipoproteinemia / Q000097:blood / Q000235:genetics*; D001055:Apolipoproteins B / Q000032:analysis / Q000235:genetics; D001827:Body Height; D001835:Body Weight; D002170:Canada; D002352:Carrier Proteins / Q000235:genetics*; D008078:Cholesterol, LDL / Q000032:analysis / Q000235:genetics; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: D001055:Apolipoproteins B; D002352:Carrier Proteins; D008078:Cholesterol, LDL; C106092:microsomal triglyceride transfer protein