Abstract
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.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: 15 August 1996 / Accepted: 10 February 1997
Rights and permissions
About this article
Cite this article
Kotze, M., de Villiers, J., Loubser, O. et al. A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia. Hum Genet 100, 101–103 (1997). https://doi.org/10.1007/s004390050473
Issue Date:
DOI: https://doi.org/10.1007/s004390050473