Document Detail

Familial hypercholesterolemia in Utah kindred with novel R103W mutations in exon 4 of the LDL receptor gene.
MedLine Citation:
PMID:  10611909     Owner:  NLM     Status:  MEDLINE    
Heterozygous familial hypercholesterolemia (FH) is a serious disorder causing twice normal low-density lipoprotein cholesterol levels early in childhood and very early coronary disease in both men and women. Previously published blood cholesterol criteria greatly under-diagnosed new cases of FH among members of known families with FH and over-diagnosed FH among participants of general population screening. Thus, there is a need for accurate and genetically validated criteria for the early diagnosis of heterozygous FH. In the course of investigations of coronary artery disease in Utah, we identified a family whose proband showed elevated plasma levels of LDL cholesterol. To carry out molecular genetic diagnosis of the disease, we screened DNA samples for mutations in all 18 exons and the exon- intron boundaries of the low-density lipoprotein (LDL) receptor gene. Novel point mutations were identified in the proband: a C-to-T transversion at nucleotide position 369, causing substitution of Tryptophan for Arginine at codon 103 in exon 4 of the LDL receptor gene. The SSCP method was used to examine seven members of the family recruited for the diagnosis. This method helped to unequivocally diagnose only the proband as heterozygous for this particular LDL receptor mutation while excluding the remaining six individuals from carrier status with FH.
H Katsumata; M Emi; Y Nobe; T Nakajima; T Hirayama; L L Wu; S H Stephenson; P N Hopkins; R R Williams
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Japanese heart journal     Volume:  40     ISSN:  0021-4868     ISO Abbreviation:  Jpn Heart J     Publication Date:  1999 Jul 
Date Detail:
Created Date:  2000-01-05     Completed Date:  2000-01-05     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0401175     Medline TA:  Jpn Heart J     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  443-9     Citation Subset:  IM    
Department of Molecular Biology, Nippon Medical School, Kawasaki, Japan.
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MeSH Terms
DNA Mutational Analysis
Hyperlipoproteinemia Type II / diagnosis,  genetics*
Point Mutation*
Polymorphism, Single-Stranded Conformational
Receptors, LDL / genetics*
Grant Support
Reg. No./Substance:
0/Receptors, LDL

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