Abetalipoproteinemia in Israel: Evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient

Molecular Genetics and Metabolism

Volumn 90, Issue 4, 2007, Pages 453-457

  Benayoun, Liat ^a,b   Granot, Esther ^c   Rizel, Leah ^a   Allon Shalev, Stavit ^b   Behar, Doron M ^d   Ben Yosef, Tamar ^a  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b HAEMEK MEDICAL CENTER   (Israel)

^c KAPLAN MEDICAL CENTER   (Israel)

^d Laboratory of Molecular Dermatology   (Israel)

Author keywords

Abetalipoproteinemia; Ashkenazi Jews; Contiguous gene deletion; Microsomal triglyceride transfer protein; MTP

Indexed keywords

MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN;

ABETALIPOPROTEINEMIA; ADULT; ARAB; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; HAPLOTYPE; HETEROZYGOTE DETECTION; HUMAN; ISRAEL; JEW; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RACE DIFFERENCE; SCHOOL CHILD;

ABETALIPOPROTEINEMIA; APOLIPOPROTEINS B; ARABS; CHOLESTEROL; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; ISRAEL; JEWS; MUTATION; POPULATION GROUPS; TRIGLYCERIDES;

EID: 33947587430     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.12.010     Document Type: Article

References (23)

1. Kane J., and Havel R. Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In: Scriver C., Beaudet A., Sly W., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill, New York 2717-2752
2. Granot E., and Deckelbaum R.J. Hypocholesterolemia in childhood. J. Pediatr. 115 (1989) 171-185
3. Granot E., and Kohen R. Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation. Am. J. Clin. Nutr. 79 (2004) 226-230
4. Chowers I., Banin E., Merin S., Cooper M., and Granot E. Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients. Eye 15 (2001) 525-530
5. Shoulders C.C., Brett D.J., Bayliss J.D., Narcisi T.M., Jarmuz A., Grantham T.T., Leoni P.R., Bhattacharya S., Pease R.J., Cullen P.M., Sassoon L., Byfield P.G.H., Purkiss P., and Scott J. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. Hum. Mol. Genet. 2 (1993) 2109-2116
6. Sharp D., Blinderman L., Combs K., Kienzle B., Ricci B., Wager-Smith K., Gil C., Turck C., Bouma M., Rader D., Aggerbeck L., Gregg R., Gordon D., and Wetterau J. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinemia. Nature 365 (1993) 65-69
7. Rehberg E.F., Samson-Bouma M.E., Kienzle B., Blinderman L., Jamil H., Wetterau J.R., Aggerbeck L.P., and Gordon D.A. A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. J. Biol. Chem. 271 (1996) 29945-29952
8. Narcisi T.M., Shoulders C.C., Chester S.A., Read J., Brett D.J., Harrison G.B., Grantham T.T., Fox M.F., Povey S., de Bruin T.W., Erkelens D.W., Muller D.P.R., Llyod J.K., and Scott J. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Am. J. Hum. Genet. 57 (1995) 1298-1310
9. Di Leo E., Lancellotti S., Penacchioni J.Y., Cefalu A.B., Averna M., Pisciotta L., Bertolini S., Calandra S., Gabelli C., and Tarugi P. Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. Atherosclerosis 180 (2005) 311-318
10. Wang J., and Hegele R.A. Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. Hum. Mutat. 15 (2000) 294-295
11. Ricci B., Sharp D., O'Rourke E., Kienzle B., Blinderman L., Gordon D., Smith-Monroy C., Robinson G., Gregg R.E., Rader D.J., and Wetterau J.R. A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia. J. Biol. Chem. 270 (1995) 14281-14285
12. Yang X.P., Inazu A., Yagi K., Kajinami K., Koizumi J., and Mabuchi H. Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. Arterioscler. Thromb. Vasc. Biol. 19 (1999) 1950-1955
13. Berthier M.T., Couture P., Houde A., Paradis A.M., Sammak A., Verner A., Depres J.P., Gagne C., Gaudet D., and Vohl M.C. The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians. Mol. Genet. Metab. 81 (2004) 140-143
14. Ohashi K., Ishibashi S., Osuga J., Tozawa R., Harada K., Yahagi N., Shionoiri F., Iizuka Y., Tamura Y., Nagai R., Illingworth D.R., Gotoda T., and Yamada N. Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. J. Lipid Res. 41 (2000) 1199-1204
15. Mier M., Schwartz S.O., and Boshes B. Acanthrocytosis, pigmentary degeneration of the retina and ataxic neuropathy: a genetically determined syndrome and associated metabolic disorder. Blood 16 (1960) 1586-1608
16. Zlotogora J., Bach G., and Munnich A. Molecular basis of Mendelian disorders among Jews. Mol. Genet. Metab. 69 (2000) 169-180
17. Ostrer H. A genetic profile of contemporary Jewish populations. Nat. Rev. Genet. 2 (2001) 891-898
18. Ben-Yosef T., and Friedman T.B. The genetic bases for syndromic and nonsyndromic deafness among Jews. Trends Mol. Med. 9 (2003) 496-502
19. Grimberg J., Nawoschik S., Belluscio L., McKee R., Turck A., and Eisenberg A. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res. 17 (1989) 8390
20. Zlotogora J., and Bach G. The possibility of a selection process in the Ashkenazi Jewish population. Am. J. Hum. Genet. 73 (2003) 438-440
21. Risch N., Tang H., Katzenstein H., and Ekstein J. Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection. Am. J. Hum. Genet. 72 (2003) 812-822
22. Osier M.V., Pakstis A.J., Soodyall H., Comas D., Goldman D., Odunsi A., Okonofua F., Parnas J., Schulz L.O., Bertranpetit J., Bonne-Tamir B., Lu R.B., Kidd J.R., and Kidd K.K. A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity. Am. J. Hum. Genet. 71 (2002) 84-99
23. Jackman J.E., Montange R.K., Malik H.S., and Phizicky E.M. Identification of the yeast gene encoding the tRNA m1G methyltransferase responsible for modification at position 9. RNA 9 (2003) 574-585