LETTER TO JMG

Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes

J C Oosterwijk¹, S Mansour², G van Noort³, H R Waterham⁴, C M Hall⁵ and R C M Hennekam⁴

¹ Department of Clinical Genetics, Groningen University Hospital, Groningen, Netherlands
² Department of Medical Genetics, St George’s Hospital Medical School, London, United Kingdom
³ Regional Pathology Laboratory, Enschede, Netherlands
⁴ Department of Paediatrics, Emma Children’s Hospital, Academic Medical Centre, Amsterdam, Netherlands
⁵ Department of Radiology, Great Ormond Street Hospital for Children, London, United Kingdom

Correspondence to:
Correspondence to:
Dr J C Oosterwijk
Department of Clinical Genetics, University Hospital Groningen, P.O. Box 30.001, NL-9700RB, Groningen, Netherlands; j.c.oosterwijk@medgen.azg.nl

Keywords: Greenberg/HEM skeletal dysplasia; Pelger-Huët homozygosity

Abbreviations: HEM, hydrops, ectopic calcifications, moth-eaten; LBR, lamin B receptor gene; PHA, Pelger-Huët anomaly

The first 150 words of the full text of this article appear below.

In 1928 the Dutch physician Pelger described two patients with a morphological abnormality of leukocytes that consisted of hypolobulation of the nuclei: there were two lobes instead of the usual five or more and the chromatin structure was coarse and denser.¹ This was subsequently shown to be a genetic trait by paediatrician Huët.² In the following years many families with Pelger-Huët anomaly (PHA) from different countries were reported and autosomal dominant inheritance was firmly established.³ Bilobulated PHA nuclei ("spectacle" or "pince-nez" cells) can also be a transient symptom in the presence of underlying disease (—for example, infection, myeloid leukaemia or medication) as part of a "shift to the left" (pseudo PHA), but constitutional PHA is a constant, genetic, and harmless nucleomorphic variant.³ The frequency of PHA ranges from 0.01–0.1%, with documented clustering in the region of Gelenau, Germany, where 1% of the population has PHA.⁴

Homozygosity for PHA was first . . . [Full text of this article]

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