Pelger-Huet anomaly

Pelger-Huet anomaly is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes.

Heterozygotes show hypolobulated neutrophil nuclei with coarse chromatin.

Presumed homozygous individuals have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy, and skeletal abnormalities.

Pelger-Huet anomaly is caused by mutation in the gene encoding the lamin B receptor (LBR; MIM.600024).