Primary hyperoxaluria type I: A model for multiple mutations in a monogenic disease within a distinct ethnic group

Journal of the American Society of Nephrology

Volumn 10, Issue 11, 1999, Pages 2352-2358

  Rinat, Choni ^a   Wanders, Ronald J A ^b   Drukker, Alfred ^a   Halle, David ^a   Frishberg, Yaacov ^a,c  

^a HEBREW UNIVERSITY   (Israel)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE GLYOXYLATE AMINOTRANSFERASE; AMINO ACID;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ETHNIC GROUP; GENE MUTATION; GENETIC POLYMORPHISM; HOMOZYGOSITY; HUMAN; ISRAEL; KIDNEY FAILURE; METABOLIC DISORDER; MONOGENIC DISORDER; NEPHROLITHIASIS; OXALOSIS 1; PRIORITY JOURNAL;

EID: 0032736232     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

1. Watts RWE: Primary hyperoxaluria type 1. Q J Med 87: 593-600, 1994
2. Cochat P, Deloraine A, Rotily M, Olive F, Liponski I, Deries N: Epidemiology of primary hyperoxaluria type 1. Nephrol Dial Transplant 10[Suppl 8]: 3-7, 1995
3. Latta K, Brodhel J: Primary hyperoxaluria type I. Eur J Pediatr 149: 518-522, 1990
4. Kamoun A, Lakhoua R: End-stage renal disease of the Tunisian child: Epidemiology, etiologies and outcome. Pediatr Nephrol 10: 479-482, 1996
5. Purdue PE, Lumb MJ, Fox M, Griffo G, Hamon-Benais C, Povey S, Danpure C: Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase. Genomics 10: 34-42, 1991
6. Tarn AC, von Schnakenburg C, Rumsby G: Primary hyperoxaluria type 1: Diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT). J Inherited Metab Dis 5: 689-696, 1997
7. Horvath VAP, Wanders RJA: Rapid identification of primary hyperoxaluria type I patients using a novel, fully automated method for measurement of hepatic alanine:glyoxylate aminotransferase. J Inherited Metab Dis 17: 336-338, 1994
8. Andy V, Horvath P, Wanders RJA: Re-evaluation of conditions required for measurement of true alanine:glyoxylate aminotransferase activity in human liver: Implications for diagnosis of hyperoxaluria type I. Ann Clin Biochem 31; 361-366, 1994
9. Purdue PE, Lumb MJ, Allsop J, Danpure CJ. An intronic duplication in alanine:glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1. Hum Genet 87: 394-396, 1991
10. Minatogawa Y, Tone S, Allaop J, Purdue PE, Takada Y, Danpure CJ, Kido R: A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1. Hum Mol Genet 1: 643-644, 1992
11. Danpure CJ, Purdue PE, Fryer P, Griffiths S, Allsop J, Lumb MJ, Guttridge KM, Jennings PR, Scheinman JI, Mauer SM, Davidson NO: Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregations. Am J Hum Genet 53: 417-423, 1993
12. von Schnakenburg C, Rumsby G: Identification of new mutations in primary hyperoxaluria type 1 (PH1). J Nephrol 11[Suppl 1]: 15-17, 1998
13. von Schnakenburg C, Rumsby G: Primary hyperoxaluria type 1: A cluster of new mutations in exon 7 of the AGXT gene. J Med Genet 34: 489-492, 1997
14. Danpure CJ, Jennings PR, Fryer P, Purdue PE, Allsop J: Primary hyperoxaluria type 1: Genotypic and phenotypic heterogeneity. J Inherited Metab Dis 17: 487-499, 1994
15. Danpure CJ, Cooper PJ, Wise PJ, Jennings PR: An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: Peroxisomal alanine:glyoxylate aminotransferase rerouted to mitochondria. J Cell Biol 108: 1345-1352, 1989
16. Purdue PE, Lumb MJ, Danpure CJ: Molecular evolution of alanine:glyoxylate aminotransferase and intracellular targeting: Analysis of marmoset and rabbit genes. Eur J Biochem 207: 757-766, 1992
17. Bach G, Moskowitz SM, Tieu PT, Matyniu A, Neufeld EF: Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: Multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet 53: 330-338, 1993
18. Warner LE, Shohat M, Shorer Z, Lupsky JR: Multiple de novo MPZ(Po) point mutations in a sporadic Dejerine-Sottas case. Hum Mitat 10: 21-24, 1997
19. Motulsky AG: Jewish diseases and origins. Nat Genet 9: 99-101, 1995
20. Fisher CR, Cuang JL, Cox RP, Fisher CW, Star RA, Chuang DT: Maple syrup urine disease in Mennonites: Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chained alpha-keto acid dehydrogenase complex. J Clin Invest 88: 1034-1037, 1991
21. Avigad S, Cohen BE, Bauer S, Schwartz G, Frydman M, Woo SL, Niny Y, Shiloh Y: A single origin of phenylketonuria in Yemenite Jews. Nature 344: 168-170, 1990
22. Hechtman P, Kaplun F, Beyleran J, Boulay B, Andermann E, de-Braekeleer M, Melancon S, Lambert M, Potier M, Gagne R, Kolodny E, Clow C, Capua C, Prevost C, Scriver C: More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians. Am J Hum Genet 47: 815-822, 1990
23. Davignon J, Roy M: Familial hypercholesterolemia in French-Canadians: Taking the advantage of the presence of a founder effect. Am J Cardiol 72: 6D-10D, 1993
24. Rund D, Cohen T, Filon D, Dowling CE, Warren TC, Barak I, Rachmilewitz E, Kazazian HH Jr, Oppenheim A: Evolution of a genetic disease in an ethnic isolate: β-Thalassemia in the Jews of Kurdistan. Proc Natl Acad Sci USA 88: 310-314, 1991
25. Heinisch U, Zlotogora J, Kafert S, Gieselmann V: Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am J Hum Genet 56: 51-57, 1995
26. Anikster Y, Shaag A, Joseph A, Mandel H, Ben-Zeev B, Christensen E, Elpeleg ON: Glutaric aciduria type 1 in the Arab and Jewish communities in Israel. Am J Hum Genet 59: 1012-1018, 1996
27. Richard I, Bronx O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C. Hillaire D, Passos-Bueno MR, Zatz M, Tischfield JA, Fardeau M, Jackson CE, Cohen D, Beckmann JS: Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81: 27-40, 1995
28. Zlotogora J: Selection for carriers of recessive diseases: A common phenomenon? Am J Med Genet 80: 266-268, 1998
29. Beckmann J: The Reunion paradox and the digenic model. Am J Hum Genet 59: 1400-1402, 1996
30. Zlotogora J, Gieselmann V, Bach G: Multiple mutations in a specific gene in a small geographic area: A common phenomenon? Am J Hum Genet 58: 241-243, 1996
31. Jaber L, Bailey-Wilson JE, Haj-Yehia M, Hernandez J, Shohat M: Consanguineous matings in an Israeli-Arab community. Arch Pediatr Adolesc Med 148: 412-415, 1994
32. Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA: Achondroplasia is defined by recurrent G380R mutations in FGR3. Am J Hum Genet 56: 368-373, 1995