The LDLR variant T705I does not cause the typical phenotype of familial hypercholesterolaemia

Atherosclerosis

Volumn 188, Issue 1, 2006, Pages 218-219

  Graham, Colin A ^a   Wright, William T ^a   McIlhatton, Brian P ^a   Young, Ian S ^b   Paul Nicholls, D ^b  

^a ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

^b ROYAL VICTORIA HOSPITAL   (United Kingdom)

Author keywords

Famlial hypercholesterolaemia (FH); Low density lipoprotein receptor (LDLR); T705I

Indexed keywords

APOLIPOPROTEIN B; CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; POLYPYRIMIDINE TRACT BINDING PROTEIN;

ALLELE; CONTROLLED STUDY; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; INTRON; LETTER; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS;

ADOLESCENT; GENETIC SCREENING; GENETIC TESTING; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MUTATION; PHENOTYPE; RECEPTORS, LDL;

EID: 33746497990     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2006.04.014     Document Type: Letter

References (4)

1. Graham C.A., McIlhatton B.P., Kirk C.W., et al. Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate. Atherosclerosis 182 (2005) 331-340
2. Lombardi P., Sijbrands E.J., Kamerling S., Leuven J.A., and Havekes L.M. The T705I mutation of the low density lipoprotein receptor gene (FH Paris-9) does not cause familial hypercholesterolemia. Hum Genet 99 (1997) 106-107
3. Heath K.E., Whittal R.A., Miller G.J., and Humphries S.E. I705 variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels. J Med Genet 37 (2000) 713-715
4. Alharbi K.K., Aldahmesh M.A., Spanakis E., et al. Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population. Genome Res 15 (2005) 967-977