The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians

Mol Genet Metab. 2004 Feb;81(2):140-3. doi: 10.1016/j.ymgme.2003.11.001.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abetalipoproteinemia / blood
  • Abetalipoproteinemia / genetics*
  • Apolipoproteins B / analysis
  • Apolipoproteins B / genetics
  • Body Height
  • Body Weight
  • Canada
  • Carrier Proteins / genetics*
  • Cholesterol, LDL / analysis
  • Cholesterol, LDL / genetics
  • Exons
  • Female
  • Gene Frequency
  • Genes, Recessive
  • Homozygote
  • Humans
  • Male
  • Mutation*


  • Apolipoproteins B
  • Carrier Proteins
  • Cholesterol, LDL
  • microsomal triglyceride transfer protein