A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia.
Two novel mutations Q363X and D365E were identified in the low-density lipoprotein receptor gene in a Cypriot patient with heterozygous familial hypercholesterolemia. Restriction enzyme analysis of the index case and seven of her family members, by using AvaII and PvuII respectively, demonstrated that the two exon 8 mutations are transmitted in cis within the family. The disease phenotype is probably caused by the stop-363 mutation; this would result in a truncated protein that would probably be rapidly degraded in the extracellular space.
Kotze
M J
MJ
Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa. mjk@maties.sun.ac.za
de Villiers
J N
JN
Loubser
O
O
Thiart
R
R
Scholtz
C L
CL
Raal
F J
FJ
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003535:Cyprus; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005091:Exons; D005260:Female; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011973:Receptors, LDL / Q000235:genetics*
D011973:Receptors, LDL; C025630:CAGCTG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific; C038308:GGWCC-specific type II deoxyribonucleases