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Mutation analysis in 46 German families with familial hypercholesterolemia: Identification of 8 new mutations

✍ Scribed by Margit Ebhardt; Hartmut Schmidt; Thilo Doerk; Uwe Tietge; Regina Haas; Michael-Peter Manns; Joerg Schmidtke; Manfred Stuhrmann

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 29 KB
Volume: 13
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1999)13:3<257::aid-humu14>3.0.co;2-d

No coin nor oath required. For personal study only.

✦ Synopsis

In order to obtain a survey of the mutations being prevalent in Northern Germany and to enable molecular genetic testing for families with clinically diagnosed familial hypercholesterolemia (FH), we screened 46 unrelated German individuals with elevated LDL levels for mutations in the 18 exons and their flanking intron sequences including the promotor region of the LDL receptor (LDLR) gene. In addition, we tested all patients for the presence of mutations in the gene coding for apolipoprotein B-100 (apoB-100). We detected 15 mutations affecting the LDLR gene, 8 of which, designated A29S, 195insAT, 313+1insG, 553insG, 680insGGACAAATCTG, D200N, E267K and L411V have not yet been reported. One patient is heterozygous for the double mutant N543H and 2393del9Bp. Two patients carried the mutation R3500Q (Arg→Glu) within the apoB-100 gene.

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