Document Detail


Familial hypercholesterolemia in Utah kindred with novel 2412-6 Ins G mutations in exon 17 of the LDL receptor gene.
MedLine Citation:
PMID:  10611908     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Familial hypercholesterolemia (FH) is a monogenic disorder associated with primary hypercholesterolemia. FH is characterized by autosomal co-dominant inheritance with strikingly elevated LDL-cholesterol, the presence of xanthoma and premature atherosclerosis. 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 determine the genetic etiology of the lipoprotein abnormalities, we screened DNA samples from the family for mutations in all 18 exons and the exon- intron boundaries of the low-density lipoprotein receptor (LDLR) gene. Novel point mutations were identified in the proband: a one-base insertion of G to a five-G stretch at nucleotides 2412-6 (codons 783-785), causing a frameshift in exon 17 of the LDL receptor gene. The direct sequencing method was used to examine six members of the family recruited for the diagnosis. This method helped to unequivocally diagnose the five individuals as heterozygous for this particular LDL receptor mutation. This method also helped us to diagnose with FH, or to exclude from carrier status, three children between ages 6 and 11.
Authors:
Y Nobe; M Emi; H Katsumata; T Nakajima; T Hirayama; L L Wu; S H Stephenson; P N Hopkins; R R Williams
Related Documents :
16879828 - Associations between two common polymorphisms in the abca1 gene and subclinical atheros...
24237828 - Forensic and population genetic analyses of eighteen non-codis ministr loci in the kore...
3824088 - Low-density lipoprotein-receptor gene haplotypes in afrikaans-speaking patients with ho...
15547298 - The effect of sterol regulatory element-binding protein 2 polymorphism on the serum lip...
21043778 - Character displacement and the origins of diversity.
12627228 - Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mous...
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:  435-41     Citation Subset:  IM    
Affiliation:
Department of Molecular Biology, Nippon Medical School, Kawasaki, Japan.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Child
DNA Mutational Analysis
Exons
Female
Homozygote
Humans
Hyperlipoproteinemia Type II / diagnosis,  genetics*
Male
Middle Aged
Pedigree
Point Mutation*
Polymorphism, Single-Stranded Conformational
Receptors, LDL / genetics*
Grant Support
ID/Acronym/Agency:
R01 HL47561/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/Receptors, LDL

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  The levels of lipids, lipoproteins and apolipoproteins in healthy people in the central region of th...
Next Document:  Familial hypercholesterolemia in Utah kindred with novel R103W mutations in exon 4 of the LDL recept...