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An Iranian‐Armenian LDLR frameshift mutation causing familial hypercholesterolemia
Author(s) -
Jensen H. K.,
Jensen L. G.,
Hansen P. S.,
Faergeman O.,
Gregersen N.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb04334.x
Subject(s) - frameshift mutation , ldl receptor , single strand conformation polymorphism , exon , familial hypercholesterolemia , genetics , mutation , stop codon , biology , armenian , nonsense mutation , gene , microbiology and biotechnology , lipoprotein , missense mutation , cholesterol , biochemistry , philosophy , linguistics
We used polymerase chain reaction single‐strand conformation polymorphism (PCR‐SSCP) analysis to detect a mutation in the low density lipoprotein receptor (LDLR) gene in a family of Iranian‐Armenian origin. The mutation, designated FH Yrmeih, deletes two nucleotides from exon 10 of the LDLR gene, which causes a translational frameshift, whereby a truncated LDLR protein of the first 471 residues of the LDLR with an additional 41 abnormal residues and a premature stop codon would be created. The deletion was detected in a father and son with clinical features of heterozygous FH. To our knowledge this is the first pathogenetic LDLR mutation identified in FH patients of Iranian‐Armenian ancestry.