title: Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.
abstract: Abetalipoproteinemia (ABL) is a rare autosomal recessive metabolic disorder, characterized by the absence of plasma apolipoprotein B-containing lipoproteins and very low levels of plasma triglycerides and cholesterol. ABL is caused by mutations of the MTP gene. We investigated the genetic basis for ABL in a cohort of Israeli families. In Ashkenazi Jewish patients we identified a conserved haplotype and a common MTP mutation, p.G865X, with a carrier frequency of 1:131 in this population. We also report the first case of ABL and additional abnormalities in a Muslim Arab patient, due to a homozygous contiguous gene deletion of approximately 481 kb, including MTP and eight other genes.
authors.affiliation: Department of Genetics and The Rappaport Family Institute for Research in the Medical Sciences, Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
authors.forename: Liat
authors.initials: L
authors.lastname: Benayoun
authors.forename: Esther
authors.initials: E
authors.lastname: Granot
authors.forename: Leah
authors.initials: L
authors.lastname: Rizel
authors.forename: Stavit
authors.initials: S
authors.lastname: Allon-Shalev
authors.forename: Doron M
authors.initials: DM
authors.lastname: Behar
authors.forename: Tamar
authors.initials: T
authors.lastname: Ben-Yosef
mesh_terms: D000012:Abetalipoproteinemia / Q000235:genetics*; D001055:Apolipoproteins B / Q000097:blood / Q000172:deficiency; D018912:Arabs; D002784:Cholesterol / Q000097:blood / Q000172:deficiency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007557:Israel; D007585:Jews; D009154:Mutation; D044382:Population Groups; D014280:Triglycerides / Q000097:blood / Q000172:deficiency
chemical_list: D001055:Apolipoproteins B; D014280:Triglycerides; D002784:Cholesterol