The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians.
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.
Berthier
Marie-Thérèse
MT
Lipid Research Center, CHUL Research Center, Sainte-Foy, Québec, Canada
Couture
Patrick
P
Houde
Alain
A
Paradis
Ann-Marie
AM
Sammak
Alya'a
A
Verner
Andrei
A
Deprés
Jean-Pierre
JP
Gagné
Claude
C
Gaudet
Daniel
D
Vohl
Marie-Claude
MC
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
D001055:Apolipoproteins B; D002352:Carrier Proteins; D008078:Cholesterol, LDL; C106092:microsomal triglyceride transfer protein