title: A compound heterozygote for familial hypercholesterolaemia with a homozygous mother.
abstract: 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-->Ser at 317), derived from his mother, and the other was a recurrent mutation, FH Niigata (T-->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.
authors.affiliation: Second Department of Internal Medicine, Osaka University Medical School, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Funahashi
authors.forename: S
authors.initials: S
authors.lastname: Yamashita
authors.forename: T
authors.initials: T
authors.lastname: Maruyama
authors.forename: Y
authors.initials: Y
authors.lastname: Ueyama
authors.forename: M
authors.initials: M
authors.lastname: Menju
authors.forename: Y
authors.initials: Y
authors.lastname: Nagai
authors.forename: K
authors.initials: K
authors.lastname: Takemura
authors.forename: Y
authors.initials: Y
authors.lastname: Miyake
authors.forename: S
authors.initials: S
authors.lastname: Tajima
authors.forename: Y
authors.initials: Y
authors.lastname: Matsuzawa
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009035:Mothers; D010375:Pedigree