Molecular and Genetic Medicine

Humphries SE

Publications

• Case Report
  A Case Report of a South Asian Family with Homozygous and Heterozygous Familial Defective APOB-100 Caused by p.(Arg3527Trp)
  Author(s): Inessa T, Fairoozy RH, Humphries SE, Futema M and Hughes EAInessa T, Fairoozy RH, Humphries SE, Futema M and Hughes EA
  
  Familial hypercholesterolemia (FH) is an autosomal dominant disorder most commonly caused by mutations in the gene for the Low-Density Lipoprotein (LDL) receptor (LDLR), but about 5% of patients in the UK with a clinical diagnosis of FH have a mutation in the gene for apolipoprotein B (APOB). This disorder is called Familial Defective APOB-100 (FDB), and while plasma total- and LDL-cholesterol levels overlap between patients with FDB and those with LDLR mutations, usually those with FDB present with a milder form of the disease, especially in homozygous FDB compared to LDLR mutation-caused FH. The most common mutation in APOB is p.(Arg3527Gln), but another APOB mutation p.(Arg3527Trp) has previously been identified in a family of South Asian origin. Here we describe a consanguineous marriage of parents of South Asian origin with both homozygous and heterozygous offspring with the APOB.. Read More»
  DOI: 10.4172/1747-0862.1000298

  Abstract PDF