Lamin B-receptor mutations in Pelger-Huët anomaly.
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.
Best
Steve
S
Department of Haematology, King's College Hospital, London, UK, SE5 9RS.
Salvati
Filippo
F
Kallo
Juraj
J
Garner
Chad
C
Height
Sue
S
Thein
Swee Lay
SL
Rees
David C
DC
D002467:Cell Nucleus / Q000648:ultrastructure; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009504:Neutrophils / Q000648:ultrastructure; D010381:Pelger-Huet Anomaly / Q000235:genetics* / Q000276:immunology; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D017422:Sequence Analysis, DNA; D000097682:Lamin B Receptor
D018160:Receptors, Cytoplasmic and Nuclear; D000097682:Lamin B Receptor