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A compound heterozygote for familial hypercholesterolaemia with a homozygous mother
Author(s) -
FUNAHASHI T.,
YAMASHITA S.,
MARUYAMA T.,
UEYAMA Y.,
MENJU M.,
NAGAI Y.,
TAKEMURA K.,
MIYAKE Y.,
TAJIMA S.,
MATSUZAWA Y.
Publication year - 1996
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1046/j.1365-2796.1996.406000.x
Subject(s) - proband , compound heterozygosity , heterozygote advantage , medicine , familial hypercholesterolemia , mutation , point mutation , endocrinology , genetics , cholesterol , gene , allele , biology
Homozygous familial hypercholesterolaemia (FH) is a rare disorder in which the patients develop severe hypercholesterolaemia and premature coronary 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 characteristics of homozygous FH. Sequencing analysis of the low‐density lipoprotein receptor gene revealed that he was a compound heterozygote, carrying two different point mutations. One was a novel mutation, FH Wakayama (Cys→A Ser at 317), derived from his mother, and the other was a recurrent mutation, FH Niigata (T→A C at 1845+2, 5′ splice signal 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 mother.