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16. Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.

Author

Di Leo E, Lancellotti S, Penacchioni JY, Cefalù AB, Averna M, Pisciotta L, Bertolini S, Calandra S, Gabelli C, and Tarugi P

Subjects
Abetalipoproteinemia physiopathology, Adult, Child, Preschool, DNA Mutational Analysis, Female, Genotype, Humans, Hypobetalipoproteinemias physiopathology, Male, Pedigree, Phenotype, Abetalipoproteinemia genetics, Carrier Proteins genetics, Hypobetalipoproteinemias genetics
Abstract

Familial hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL) are inherited disorders of apolipoprotein B (apo B)-containing lipoproteins that result from mutations in apo B and microsomal triglyceride transfer protein (MTP) genes, respectively. Here we report three patients with severe deficiency of plasma low-density lipoprotein (LDL) and apo B. Two of them (probands F.A. and P.E.) had clinical and biochemical phenotype consistent with ABL. Proband F.A. was homozygous for a minute deletion/insertion (c.1228delCCCinsT) in exon 9 of MTP gene predicted to cause a truncated MTP protein of 412 amino acids. Proband P. E. was heterozygous for a mutation in intron 9 (IVS9-1G>A), previously reported in an ABL patient. We failed to find the second pathogenic mutation in MTP gene of this patient. No mutations were found in apo B gene. The third proband (D.F.) had a less severe lipoprotein phenotype which was similar to that of heterozygous FHBL and appeared to be inherited as a co-dominant trait. However, he had no mutations in apo B gene. He was found to be a compound heterozygote for two missense mutations (D384A and G661A), involving highly conserved regions of MTP. Since this proband was also homozygous for varepsilon2 allele of apolipoprotein E (apo E), it is likely that his hypobetalipoproteinemia derives from a combined effect of a mild MTP deficiency and homozygosity for apo E2 isoform.

Published
2005
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