Key result
Novel 6-kilobase LDLR gene deletion identified in Japanese patients with familial hypercholesterolemia.
Observational (n=35)
Identified a novel 6-kb deletion in the LDLR gene (FH-Tonami) causing familial hypercholesterolemia in a Japanese cohort, enabling neonatal diagnosis.
May aid targeted FH screening in Japanese patients; leaves open validation before wider adoption.
A new variant of the low density lipoprotein receptor (LDLR) gene was ascertained through Southern blotting analysis of LDLR genes of 35 unrelated Japanese patients with heterozygous familial hypercholesterolemia (FH). This mutant gene had a 6 kilobase deletion which had eliminated only exon 15, an exon that encodes the O-linked sugar domain. The mutation was recognized in two patients with heterozygous FH. We refer to these patients as 'FH-Tonami', since they were both born in the Japanese district of Tonami. Although there is no evidence of a relation between families, the possibility of a common ancestor with FH does exist. Neonatal diagnosis of FH in two fetuses from one family was possible through analyses of their LDLR genes in cord blood samples at delivery.
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Kajinami et al. (1988) conducted an observational in Familial hypercholesterolemia (n=35). 6 kb deletion in the LDLR gene (FH-Tonami) vs. Normal LDLR allele was evaluated on Detection of abnormal LDLR gene fragments. A novel 6-kilobase deletion in the low density lipoprotein receptor gene, designated FH-Tonami, was identified in two unrelated Japanese patients with familial hypercholesterolemia.
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