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Lamin B‐receptor mutations in Pelger–Huët anomaly
Author(s) -
Best Steve,
Salvati Filippo,
Kallo Juraj,
Garner Chad,
Height Sue,
Thein Swee Lay,
Rees David C
Publication year - 2003
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2003.04621.x
Subject(s) - exon , genetics , mutation , biology , microbiology and biotechnology , gene , splice site mutation , alternative splicing
Summary. Pelger–Huët anomaly is an inherited abnormality of neutrophils, characterized by reduced nuclear segementation 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.