Lamin B-receptor mutations in Pelger-Huët anomaly

Br J Haematol. 2003 Nov;123(3):542-4. doi: 10.1046/j.1365-2141.2003.04621.x.

Abstract

Pelger-Huët anomaly is an inherited abnormality of neutrophils, characterized by reduced nuclear segmentation and an apparently looser chromatin structure. Following linkage studies in two families, the lamin B-receptor (LBR) was sequenced and mutations found: CCG-->CTG causing proline-->leucine in codon 119 of exon 3, and IVS11-9 A-->G, disrupting the splice acceptor site. The LBR gene (LBR) was also sequenced from a single English man with Pelger-Huët anomaly and a heterozygous C-->G mutation was found in codon 569 of exon 14, predicted to cause a proline-->arginine. Our results confirm recently published findings that LBR mutations cause Pelger-Huët.

MeSH terms

  • Cell Nucleus / ultrastructure
  • Genetic Linkage
  • Humans
  • Male
  • Neutrophils / ultrastructure
  • Pelger-Huet Anomaly / genetics*
  • Pelger-Huet Anomaly / immunology
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Receptors, Cytoplasmic and Nuclear / genetics*
  • Sequence Analysis, DNA

Substances

  • Receptors, Cytoplasmic and Nuclear
  • lamin B receptor