Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kombinierte familiäre Hyperlipämie mit gestörtem VLDL-Metabolismus

Gliederung

Familiäre kombinierte Hyperlipämie
Kombinierte familiäre Hyperlipämie mit Dysfunktion des Fettgewebes
Kombinierte familiäre Hyperlipämie mit VLDL-Überproduktion
Kombinierte familiäre Hyperlipämie mit gestörtem VLDL-Metabolismus
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LPL
RXRG
USF1
Kombinierte familiäre Hyperlipämie mit gestörter LDL-Clearance

Referenzen:

1.

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2.

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3.

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4.

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9.

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10.

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11.

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12.

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13.

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14.

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18.

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19.

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20.

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21.

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22.

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23.

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24.

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25.

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26.

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27.

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28.

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29.

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30.

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31.

Ma Y et. al. (1992) A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries.

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32.

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33.

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34.

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35.

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36.

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37.

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38.

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39.

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40.

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41.

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42.

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43.

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44.

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45.

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46.

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47.

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48.

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49.

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50.

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51.

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52.

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53.

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54.

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55.

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56.

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57.

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58.

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59.

Yang WS et al. (1995) A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.

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60.

Lo JY et. al. (1995) Lipoprotein lipase: role of intramolecular disulfide bonds in enzyme catalysis.

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61.

Ma Y et. al. (1994) Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries.

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62.

Emi M et. al. (1993) Structure, organization, and chromosomal mapping of the human macrophage scavenger receptor gene.

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63.

Kobayashi J et. al. (1993) A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia.

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64.

Wood S et. al. (1993) Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene.

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65.

Pepe G et. al. (1994) A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity.

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66.

Haubenwallner S et. al. (1993) A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).

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67.

Wilson DE et. al. (1993) Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.

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68.

Miesenböck G et. al. (1993) Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.

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69.

Mattei MG et. al. (1993) Assignment of the human lipoprotein lipase (LPL) gene to chromosome band 8p22.

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70.

Ma Y et. al. (1993) Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene.

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71.

Reymer PW et. al. (1995) A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia.

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72.

Buscà R et. al. (1996) The mutation Gly142-->Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes.

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73.

Ginzinger DG et. al. (1996) A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats.

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74.

Weinstock PH et. al. (1995) Severe hypertriglyceridemia, reduced high density lipoprotein, and neonatal death in lipoprotein lipase knockout mice. Mild hypertriglyceridemia with impaired very low density lipoprotein clearance in heterozygotes.

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75.

Benlian P et. al. (1996) Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

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76.

Henderson HE et. al. (1996) A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase.

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77.

de Bruin TW et. al. (1996) Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia.

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78.

Wittrup HH et. al. (1997) A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease.

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79.

Mailly F et. al. (1997) Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy.

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80.

Fisher RM et. al. (1997) Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis.

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81.

Kastelein JJ et. al. (1998) The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease. The Regress Study Group.

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82.

Nickerson DA et. al. (1998) DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene.

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83.

Clark AG et. al. (1998) Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase.

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84.

Henderson HE et. al. (1998) Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.

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85.

Wittrup HH et. al. (1999) Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men. The Copenhagen city heart study.

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86.

Boer JM et. al. (1999) Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins.

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87.

Bertolini S et. al. (2000) Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)).

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88.

Hoffmann MM et. al. (2000) Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis.

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89.

Samuels ME et. al. (2001) Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: the -93G/D9N variant predisposes to low HDL-C/high triglycerides.

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90.

Gilbert B et. al. () Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6.

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91.

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92.

Yagyu H et. al. (2003) Lipoprotein lipase (LpL) on the surface of cardiomyocytes increases lipid uptake and produces a cardiomyopathy.

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93.

Ling C et. al. (2003) Identification of functional prolactin (PRL) receptor gene expression: PRL inhibits lipoprotein lipase activity in human white adipose tissue.

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94.

Yang W et. al. (2004) Lipoprotein lipase gene is in linkage with blood pressure phenotypes in Chinese pedigrees.

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95.

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96.

Pruneta-Deloche V et. al. (2005) Combination of circulating antilipoprotein lipase (Anti-LPL) antibody and heterozygous S172 fsX179 mutation of LPL gene leading to chronic hyperchylomicronemia.

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97.

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98.

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99.

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100.

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101.

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102.

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103.

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104.

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105.

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106.

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124.

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125.

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127.

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128.

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129.

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131.

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132.

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134.

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135.

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136.

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137.

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138.

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140.

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141.

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142.

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143.

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144.

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145.

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146.

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147.

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148.

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149.

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150.

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151.

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152.

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153.

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154.

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155.

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156.

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157.

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158.

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159.

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160.

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161.

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162.

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163.

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164.

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165.

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167.

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168.

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169.

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170.

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171.

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175.

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176.

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177.

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179.

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