A COMPOUND HETEROZYGOTE FOR FAMILIAL HYPERCHOLESTEROLEMIA WITH A HOMOZYGOUS MOTHER

Homozygous familial hypercholesterolaemia (FH) is a rare disorder in w hich the patients develop severe hypercholesterolaemia and premature c oronary atherosclerosis from childhood. Here we report a unique family with clustering of homozygous FH. The proband was a 25-year-old man, who showed marked hypercholesterolaemia, multiple xanthomas and severe coronary atherosclerosis, His mother also showed the typical characte ristics of homozygous FH. Sequencing analysis of the low-density lipop rotein receptor gene revealed that he was a compound heterozygote, car rying two different point mutations. One was a novel mutation, FH Waka yama (Cys --> Ser at 317), derived from his mother, and the other was a recurrent mutation, FK Niigata (T --> C at 1845 + 2, 5' splice signa l in intron 12), derived from his father, The proband we report seems to be a very rare case of an FH homozygote born from a homozygous moth er.