A New Variant of Low Density Lipoprotein Receptor Gene and its Application to Neonatal Diagnosis of Familial Hypercholesterolemia

Abstract

We screened abnormal alleles of the low density lipoprotein receptor (LDLR) gene in 35 unrelated Japanese patients with heterozygous familial hypercholesterolemia (FH), and obtained the results as follows;
1. A new variant of LDLR gene that had a 6kb deletion was found in two patients (S. O. and K. Y.).
2. We could make a neonatal diagnosis of FH in the two babies in the family of S. O. by checking this deletion in the LDLR gene.
3. S. O. and K. Y. might have a common ancestor despite no relation between their studied family pedigrees.
We designated the patient with this new mutant LDLR gene as “FH-Tonami” as both of their birthplaces were in Tonami district of Toyama prefecture in Japan.