Abetalipoproteinemia

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Acanthocytosis circulatory 100 % 10679949 2012-05-30
Hypocholesterolemia circulatory 100 % 10679949 2012-05-30
Steatorrhoea digestive 100 % 10679949 2012-05-30
Acanthocytosis circulatory 100 % 10946006 2012-05-30
Hypocholesterolemia circulatory 100 % 10946006 2012-05-30
Retinitis pigmentosa nervous 75 % 10946006 2012-05-30
Steatorrhoea digestive 75 % 10946006 2012-05-30
Areflexia nervous 75 % 10946006 2012-05-30
Retinitis pigmentosa nervous 67 % 10679949 2012-05-30
Ataxia nervous 50 % 10679949 2012-05-30
Areflexia nervous 50 % 10679949 2012-05-30
Failure to thrive multi 25 % 10946006 2012-05-30
Ataxia nervous 25 % 10946006 2012-05-30



List of references:


Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
J Wang, R A Hegele,

Abetalipoproteinemia (ABL) is an extremely rare autosomal recessive disorder, which is characterized by defective assembly and secretion of plasma apolipoprotein (apo) B-containing lipoproteins. ABL results from mutations in the gene encoding the microsomal triglyceride transfer protein (MTP). We sequenced the MTP gene in six Canadian subjects with ABL, of whom four were found to be simple homozygotes and two were found to be compound heterozygotes for MTP gene mutations. Of the 8 MTP gene mutations identified, 6 had not been previously reported, including two new nonsense mutations (K448X and K842X), two new missense mutations (S590I and G746E), one new frameshift mutation (1820del1) and one new splice donor site mutation (G1770A). Despite appropriate treatment with high doses of fat-soluble vitamins in all subjects, there was a wide variation in the progression and severity of the clinical phenotypes. For example, the presence of severe retinopathy and neuropathy did not correlate with the type and position of the mutation, but rather with the age at diagnosis and onset of treatment with fat-soluble vitamins. These findings suggest that genetic and non-genetic factors can modulate the clinical impact of mutant MTP in ABL patients.

Human mutation - Mar 2000



Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.
K Ohashi, S Ishibashi, J Osuga, R Tozawa, K Harada, N Yahagi, F Shionoiri, Y Iizuka, Y Tamura, R Nagai, D R Illingworth, T Gotoda, N Yamada,

Abetalipoproteinemia (ABL) is an inherited disease characterized by the virtual absence of apolipoprotein B (apoB)-containing lipoproteins from plasma. Only limited numbers of families have been screened for mutations in the microsomal triglyceride transfer protein (MTP) gene. To clarify the genetic basis of clinical diversity of ABL, mutations of the MTP gene have been screened in 4 unrelated patients with ABL. Three novel mutations have been identified: a frameshift mutation caused by a single adenine deletion at position 1389 of the cDNA, and a missense mutation, Asn780Tyr, each in homozygous forms; and a splice site mutation, 2218-2A-->G, in a compound heterozygous form. The frameshift and splice site mutations are predicted to encode truncated forms of MTP. When transiently expressed in Cos-1 cells, the Asn780Tyr mutant MTP bound protein disulfide isomerase (PDI) but displayed negligible MTP activity. It is of interest that the patient having the Asn780Tyr mutation, a 27-year-old male, has none of the manifestations characteristic of classic ABL even though his plasma apoB and vitamin E were virtually undetectable. These results indicated that defects of the MTP gene are the proximal cause of ABL.

Journal of lipid research - Aug 2000