HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER		Author Keyword(s) Vol Page [Advanced]

This Article Full Text Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Oosterwijk, J C Articles by Hennekam, R C M Search for Related Content PubMed PubMed Citation Articles by Oosterwijk, J C Articles by Hennekam, R C M Pubmed/NCBI databases OMIM

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

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:
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]

This article has been cited by other articles:

				T. V. Cohen, K. D. Klarmann, K. Sakchaisri, J. P. Cooper, D. Kuhns, M. Anver, P. F. Johnson, S. C. Williams, J. R. Keller, and C. L. Stewart The lamin B receptor under transcriptional control of C/EBP{varepsilon} is required for morphological but not functional maturation of neutrophils Hum. Mol. Genet., October 1, 2008; 17(19): 2921 - 2933. [Abstract] [Full Text] [PDF]

				C. A. Wassif, K. E. Brownson, A. L. Sterner, A. Forlino, P. M. Zerfas, W. K. Wilson, M. F. Starost, and F. D. Porter HEM dysplasia and ichthyosis are likely laminopathies and not due to 3{beta}-hydroxysterol {Delta}14-reductase deficiency Hum. Mol. Genet., May 15, 2007; 16(10): 1176 - 1187. [Abstract] [Full Text] [PDF]