Background: Familial Hypercholesterolemia (FH) is a genetic disorder of lipid metabolism caused by different mutations in LDL-receptor (LDL-R) gene. Aim of this study is to correlate different mutations of LDL-R gene in FH children to lipoprotein pattern. Methods: we have recruited 18 affected children among patients affering to our clinic (age 93 ys). Each subjects was analyzed by screening the LDL-R gene and lipid profile was tested in all children: total cholesterol (TC), HDL-cholesterol, tryglicerides were evaluated with enzymatic method; apolipoprotein B (apoB) with immunoturbidimetric method. Results: LDL-R/mutation exon TCmg% LDL-C mg% APOBmg% N° Y468C (new) 10 348 286 170 1 Fs354Term360 8 351 279 170 1 1075delAGGATC 8 352 278 159 1 G528D 11 342 267 171 4 E397STOP(new) 9 335 236 148 2 D200G 4 334 203 136 3 V510I8(new) 10 296 191 131 1 W469R(new) 10 234 186 125 1 IVS11 1706-10G>A in11 229 153 115 1 IVSnt-8T>C in7 225 126 107 1 Q12STOP 2 228 135 91 1 Conclusion: we observed large variation of lipid levels among children with different mutation of LDL-R gene, 5 of which were firstly detected. Further study will be necessary to define the relationship between LDL-R mutations, biochemical profile and cardiovascular risk.
LDL receptor gene mutations and lipid pattern in Italian children affected by familial hypercholesterolemia
GUARDAMAGNA, Ornella;BONDONE, claudia;
2003-01-01
Abstract
Background: Familial Hypercholesterolemia (FH) is a genetic disorder of lipid metabolism caused by different mutations in LDL-receptor (LDL-R) gene. Aim of this study is to correlate different mutations of LDL-R gene in FH children to lipoprotein pattern. Methods: we have recruited 18 affected children among patients affering to our clinic (age 93 ys). Each subjects was analyzed by screening the LDL-R gene and lipid profile was tested in all children: total cholesterol (TC), HDL-cholesterol, tryglicerides were evaluated with enzymatic method; apolipoprotein B (apoB) with immunoturbidimetric method. Results: LDL-R/mutation exon TCmg% LDL-C mg% APOBmg% N° Y468C (new) 10 348 286 170 1 Fs354Term360 8 351 279 170 1 1075delAGGATC 8 352 278 159 1 G528D 11 342 267 171 4 E397STOP(new) 9 335 236 148 2 D200G 4 334 203 136 3 V510I8(new) 10 296 191 131 1 W469R(new) 10 234 186 125 1 IVS11 1706-10G>A in11 229 153 115 1 IVSnt-8T>C in7 225 126 107 1 Q12STOP 2 228 135 91 1 Conclusion: we observed large variation of lipid levels among children with different mutation of LDL-R gene, 5 of which were firstly detected. Further study will be necessary to define the relationship between LDL-R mutations, biochemical profile and cardiovascular risk.
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