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

Authors: Berthier, MT  Couture, P  Houde, A  Paradis, AM  Sammak, A  Verner, A  Depres, JP  Gagne, C  Gaudet, D  Vohl, MC 
Citation: Berthier MT, etal., Mol Genet Metab. 2004 Feb;81(2):140-3.
Pubmed: (View Article at PubMed) PMID:14741197

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.


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RGD Object Information
RGD ID: 1581043
Created: 2006-09-12
Species: All species
Last Modified: 2006-09-12
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.