Phenotypes of patients with 'Simple' mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics

American Journal of Human Genetics

Volumn 66, Issue 6, 2000, Pages 1729-1735

  Dipple, Katrina M ^a   McCabe, Edward R B ^a,b  

^a MATTEL CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ALLELE; EDITORIAL; GAUCHER DISEASE; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; HUMAN; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

EID: 0033911995     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302938     Document Type: Article

References (49)

1. MJ Ackerman The long QT syndrome: ion channel diseases of the heart Mayo Clin Proc 73 1998 250 269
2. EV Benevolenskaya MV Frolov JA Birchler The sugarless mutation affects the expression of the white eye color gene in Drosophila melanogaster Mol Gen Genet 260 1998 131 143
3. U Bhadra JA Birchler Characterization of a sex-influenced modifier of gene expression and suppressor of position-effect variegation in Drosophila Mol Gen Genet 250 1996 601 613
4. U Bhadra M Pal-Bhadra JA Birchler A sex-influenced modifier in Drosophila that affects a broad spectrum of target loci including the histone repeats Genetics 146 1997 a 903 917
5. U Bhadra M Pal-Bhadra JA Birchler A trans-acting modifier causing extensive overexpression of genes in Drosophila melanogaster Mol Gen Genet 254 1997 b 621 634
6. MD Brand Regulation analysis of energy metabolism J Exp Biol 200 1997 193 202
7. MR Capecchi NE Capecchi SH Hughes GM Wahl Selective degradation of abnormal proteins in mammalian tissue culture cells Proc Natl Acad Sci USA 71 1974 4732 4736
8. AD Carlson JS Obeid N Kanellopoulou RC Wilson MI New Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment J Steroid Biochem Mol Biol 69 1999 19 29
9. YC Chang KD Smith RD Moore GR Serjeant GJ Dover An analysis of fetal hemoglobin variation in sickle cell disease: the relative contributions of the X-linked factor, β-globin haplotypes, α-globin gene number, gender, and age Blood 85 1995 1111 1117
10. s haplotypes Br J Haematol 96 1997 806 814
11. FYM Choy K Wong HP Shi Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients Am J Med Genet 84 1999 484 486
12. JE Craig J Rochette CA Fisher DJ Weatherall S Marc GM Lathrop F Demenais Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach Nat Genet 12 1996 58 64
13. JA Donald A Lammi RJ Trent Hemoglobin F production in heterocellular hereditary persistence of fetal hemoglobin and its linkage to the beta globin gene complex Hum Genet 80 1988 69 74
14. GJ Dover KD Smith YC Chang S Purvis A Mays DA Meyers C Sheils Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2 Blood 80 1992 816 824
15. GM Enns DR Martinez AI Kuzmin R Koch CK Wakeem SLC Woo RC Eisensmith Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population Pediatr Res 46 1999 594 602
16. ME Geffner F Su NS Ross JM Hershman C Van Dop JB Menke E Hao An arginine to histidine mutation in codon 311 of the C- erb A? gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype J Clin Invest 91 1993 538 546
17. P Guldberg F Rey J Zschocke V Romano B Francois L Michiels K Ullrich A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype Am J Hum Genet 63 1998 71 79
18. F Gurakan M Terzioglu N Kocak A Yuce H Ozen G Ciliv S Emre Analysis of three mutations in Turkish children with Gaucher disease J Inherit Metab Dis 22 1999 947 948
19. AE Hahn CF Bolton CM White WE Brown SE Tuuha CC Tan PJ Ainsworth Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease Ann NY Acad Sci 883 1999 366 382
20. NE Haites E Nelis C Van Broeckhoven 3rd Workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies, 28-30 November, 1997, Naarden, The Netherlands Neuromuscul Disord 8 1998 591 603
21. A Harder K Jendroska F Kreuz T Wirth C Schafranka N Karnatz A Theallier-Janko Novel twelve-generation kindred of fatal familial insomnia from Germany representing the entire spectrum of disease expression Am J Med Genet 87 1999 311 316
22. C Hardy F Khanim R Torres M Scott-Brown A Seller J Poulton D Collier Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1 Am J Hum Genet 65 1999 1279 1290
23. CE Hatton A Cooper C Whitehouse JE Wraith Mutation analysis in 46 British and Irish patients with Gaucher's disease Arch Dis Child 77 1997 17 22
24. PJ Ho GW Hall LY Luo DJ Weatherall SL Thein Beta-thalassaemia intermedia: is it possible consistently to predict phenotype from genotype? Br J Haematol 100 1998 a 70 78
25. PJ Ho GW Hall LY Luo DJ Weatherall SL Thein Phenotypic prediction in beta-thalassemia Ann NY Acad Sci 850 1998 b 436 441
26. J Hsieh J Liu SA Kostas C Chang PW Sternberg A Fire The RING finger/B-Box factor TAM-1 and a retinoblastoma-like protein LIN-35 modulate context-dependent gene silencing in Caenorhabditis elegans Genes Dev 13 1999 2958 2970
27. VM Ingram Specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin Nature 178 1956 792 794
28. E Kayaalp E Treacy PJ Waters S Byck P Nowacki CR Scriver Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations Am J Hum Genet 61 1997 1309 1317
29. J-W Kim BB Liou M-Y Lai E Ponce GA Grabowski Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations Hum Mutat 7 1996 214 218
30. V Koprivica DH Stone JK Park M Callahan A Frish IJ Cohen N Tayebi An analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease Am J Hum Genet 66 2000 1777 1786 (in this issue)
31. S Krauss PA Quant Regulation and control in complex, dynamic metabolic systems: experimental application of the top-down approaches of metabolic control analysis to fatty acid oxidation and ketogenesis J Theor Biol 182 1996 381 388
32. J-C Michalski A Klein Glycoprotein lysosomal storage disorders: α- and β-mannosidosis, fucosidosis and α- N -acetylgalactosaminidase deficiency Biochim Biophys Acta 1455 1999 69 84
33. +-ATPase of Saccharaomyces cerevisiae J Biol Chem 270 1995 6815 6823
34. Y Ohsumi Molecular mechanism of autophagy in yeast, Saccharomyces cerevisiae Philos Trans R Soc Lond 354 1999 1577 1581
35. L Pauling HA Itano SJ Singer IG Wells Sickle-cell anemia, a molecular disease Science 110 1949 543 548
36. F Ramirez B Gayraud L Pereira Marfan syndrome: new clues to genotype-phenotype correlations Ann Med 31 1999 202 207
37. DC Rees L Styles EP Vichinsky JB Clegg DJ Weatherall The hemoglobin E syndromes Ann NY Acad Sci 850 1998 334 343
38. P Sanyanusin LA Schimmenti LA McNoe TA Ward MEM Pierpont MJ Sullivan WB Dobyns Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux Nat Genet 9 1995 358 364
39. CH Schilling S Schuster BO Palsson R Heinrich Metabolic pathway analysis: basic concepts and scientific applications in the post-genomic era Biotechnol Prog 15 1999 296 303
40. LA Schimmenti ME Pierpont BLM Carpenter CE Kashtan MR Johnson WB Dobyns Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies Am J Med Genet 59 1995 204 208
41. CR Scriver PJ Waters Monogenic traits are not simple: lessons from phenylketonuria Trends Genet 15 1999 267 272
42. G Stamatoyannopoulos WG Wood T Papayannopoulou PE Nute A new form of hereditary persistence of fetal hemoglobin in Blacks and its association with sickle cell trait Blood 46 1975 683 692
43. M Sundaram M Han The C. elegans ksr-1 gene encodes a novel Raf-related kinase involved in Ras-mediated signal transduction Cell 83 1995 889 901
44. SL Thein M Sampietro K Rohde J Rochette DJ Weatherall GM Lathrop F Demenais Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers Am J Hum Genet 54 1994 214 228
45. E Vilain K McElreavey F Jaubert JP Raymond F Richaud M Fellous Familial case with sequence variant in the testis-determining region associated with two sex phenotypes Am J Hum Genet 50 1992 1008 1011
46. E Vilain ERB McCabe Mammalian sex determination: from gonads to brain Mol Genet Metab 65 1998 74 84
47. PJ Waters MA Parniak AS Hewson CR Scriver Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene ( PAH ) Hum Mutat 12 1998 344 354
48. DJ Weatherall Thalassemia in the next millenium Ann NY Acad Sci 850 1998 1 9
49. RC Wilson AB Mercado KC Cheng MI New Steroid 21-hydroxylase deficiency: genotype may not predict phenotype J Clin Endocrinol Metab 80 1995 2322 2329