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Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia

✍ Scribed by Ana Cenarro; Henrik K. Jensen; Elena Casao; Fernando Civeira; José González-Bonillo; José C. Rodríguez-Rey; Niels Gregersen; Miguel Pocoví

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
46 KB
Volume
11
Category
Article
ISSN
1059-7794

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✦ Synopsis

We used the single strand conformation polymorphism (SSCP) method to investigate 13 apparently unrelated Spanish patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequences of the low density lipoprotein (LDL) receptor gene. We found 16 aberrant SSCP patterns, and the underlying mutations were characterized by DNA sequencing. Five novel missense mutations, Q71E, C74G, C95R, C281Y and D679E, and one nonsense mutation, Q133X, were identified. We also found six missense mutations, S156L, D200Y, D200G, E256K, T413K and C646Y, and one stop codon mutation, W(-18)X, that were previously described in patients from other populations. A new frameshift mutation, 2085del19, was found in one patient. We http://journals.wiley.com/

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