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(Arteriosclerosis, Thrombosis, and Vascular Biology. 1999;19:1950-1955.)
© 1999 American Heart Association, Inc.

Atherosclerosis and Lipoproteins

Abetalipoproteinemia Caused by Maternal Isodisomy of Chromosome 4q Containing an Intron 9 Splice Acceptor Mutation in the Microsomal Triglyceride Transfer Protein Gene

Xiao Ping Yang; Akihiro Inazu; Kunimasa Yagi; Kouji Kajinami; Junji Koizumi; Hiroshi Mabuchi

From the Second Department of Internal Medicine (X.P.Y., A.I., K.Y., K.K., H.M.), Department of General Medicine (J.K.), School of Medicine, Kanazawa University, Takara-machi 13-1 Kanazawa, Ishikawa 920-8641, Japan.

Abstract—Uniparental disomy (UPD), a rare inheritance of 2 copies of a single chromosome homolog or a region of a chromosome from one parent, can result in various autosomal recessive diseases. Abetalipoproteinemia (ABL) is a rare autosomal recessive deficiency of apoB-containing lipoproteins caused by a microsomal triglyceride transfer protein (MTP) deficiency. In this study, we describe a patient with ABL inherited as a homozygous intron 9 splice acceptor G(-1)-to-A mutation of the transfer protein gene. This mutation alters the splicing of the mRNA, resulting in a 36 amino acids, in-frame deletion of sequence encoded by exon 10. We analyzed chromosome 4, including MTP gene (4q22-24), using short tandem repeat markers. The proband has only his mother's genes in chromosome 4q spanning a 150-centimorgan region; ie, segmental maternal isodisomy 4q21-35, probably due to mitotic recombination. Nonpaternity between the proband and his father was excluded using 6 polymorphic markers from different chromosomes (paternity probability, 0.999). Maternal isodisomy (maternal UPD 4q) was the basis for homozygosity of the MTP gene mutation in this patient.

Key Words: abetalipoproteinemia • microsomal triglyceride transfer protein • mitotic recombination • splicing mutation • uniparental disomy

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