OMIA:000783-9615 : Pelger-Huet anomaly in Canis lupus familiaris (dog)

In other species: domestic cat , rabbit

Categories: Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 169400 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific symbol: PHA

Species-specific description: Human Pelger-Huët anomaly is caused by heterozygous variants in the LBR gene and characterized by hyposegmentation of granulocytes. Bi-allelic loss of function of the LBR gene in humans results in Greenberg skeletal dysplasia, a severe condition involving prenatal lethality. All literature before 2023 hypothesized that dogs with hyposegmentation of granulocytes represent true homologs of the human Pelger-Huët anomaly, but the underlying causal genetic variant in dogs was unknown. Lourdes Frehner et al. (2023) demonstrated that a common form of hyposegmentation of granulocytes in dogs is actually caused by a variant in the LMBR1L gene (OMIA:002700-9615). Lourdes Frehner et al. (2023) proposed to reserve the term Pelger-Huët anomaly for LBR-related forms of hyposegmentation of granulocytes. At this time, it is not clear whether a true LBR-related form of PHA has ever been observed in dogs.

Clinical features: PHA is a leucocyte development-disorder, in which granulocytes and monocytes show hyposegmentation of the nuclei with a mature, coarse chromatin pattern (Latimer et al. 2000). Those changes are without any clinical relevance, but frequently lead to misdiagnosis as marked left shift, which is normally caused by inflammation, preleucaemic syndrome or drug induced changes in leucocyte morphology.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000783-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Lourdes Frehner, B., Christen, M., Reichler, I.M., Jagannathan, V., Novacco, M., Riond, B., Peters, L.M., Suárez Sánchez-Andrade, J., Pieńkowska-Schelling, A., Schelling, C., Kipar, A., Leeb, T., Balogh, O. :
Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes. PLoS Genet 19:e1010805, 2023. Pubmed reference: 37347778. DOI: 10.1371/journal.pgen.1010805.
2011 Lukaszewska, J., Allison, R.W., Stepkowska, J. :
Congenital Pelger-Huët anomaly in a Danish/Swedish Farmdog: case report. Acta Vet Scand 53:14, 2011. Pubmed reference: 21362186. DOI: 10.1186/1751-0147-53-14.
Vale, A.M., Tomaz, L.R., Sousa, R.S., Soto-Blanco, B. :
Pelger-Huët anomaly in two related mixed-breed dogs. J Vet Diagn Invest 23:863-5, 2011. Pubmed reference: 21908340. DOI: 10.1177/1040638711407891.
2000 Latimer, K.S., Campagnoli, R.P., Danilenko, D.M. :
Pelger-Huet anomaly in Australian shepherds: 87 cases (1991-1997) Comparative Haematology International 10:9-13, 2000.
1997 Mott, J., Crystal, M.A., Meinkoth, J.H. :
Pelger-Huet anomaly in an Addisonian Canine Practice 22:35-37, 1997.
1989 Latimer, K.S., Kircher, I.M., Lindl, P.A., Dawe, D.L., Brown, J. :
Leukocyte function in Pelger-Huët anomaly of dogs. J Leukoc Biol 45:301-10, 1989. Pubmed reference: 2649629. DOI: 10.1002/jlb.45.4.301.
1979 Bowles, C.A., Alsaker, R., Wolfle, T.L. :
Studies of the Pelger-Huet anomaly in Foxhounds American Journal of Pathology 96:237-247, 1979. Pubmed reference: 464021.
1967 Kiss, M., Kómár, G. :
[Pelger-Huet nuclear anomaly in leukocytes in a dog]. Berl Munch Tierarztl Wochenschr 80:474-6, 1967. Pubmed reference: 5628116.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Tosso Leeb on 26 May 2020
  • Changed by Tosso Leeb on 30 May 2020
  • Changed by Tosso Leeb on 03 Jun 2020
  • Changed by Imke Tammen2 on 23 Nov 2022
  • Changed by Tosso Leeb on 27 Jun 2023
  • Changed by Imke Tammen2 on 04 Jul 2023