OMIA 000783-9986 : Pelger-Huet anomaly in Oryctolagus cuniculus

In other species: dog , domestic cat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 169400 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Semi-Dominant

Considered a defect: yes

Key variant known: no

Species-specific symbol: Pg

Species-specific description: See Robinson (1958, pp. 354-355).

History: This disorder was reported first in rabbits (Undritz, 1939, 1943; Klein, 1949; Nachtsheim, 1950) before it was reported in humans (Harm, 1952).

Inheritance: Undritz (1939) and Nachsteim (1950) presented evidence of single-locus inheritance, with heterozygotes showing the disorder and homozygotes showing an extreme form of the disorder, including chondrodysplasia, that results in neonatal death in almost all cases.


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.
2003 Oosterwijk, J.C., Mansour, S., van Noort, G., Waterham, H.R., Hall, C.M., Hennekam, R.C. :
Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes. J Med Genet 40:937-41, 2003. Pubmed reference: 14684694.
1977 Holtz, C.R., Pfaff, J., Gärtner, K. :
[Studies on the frequency of the Pelger anomaly in the domestic rabbit population]. Zentralbl Veterinarmed A 24:409-12, 1977. Pubmed reference: 407754.
1964 Urasinski, I., Urasniska, A. :
[On the activity of neutrophilic alkaline phosphatase with Pelger-Huet anomaly in rabbits]. Patol Pol 15:233-7, 1964. Pubmed reference: 14241274.
1958 Robinson, R. :
Genetic studies of the rabbit. Bibliographia Genetica 17:229–558, 1958.
1953 Harm, H. :
[Effect of colchicine on the white blood picture of Pelger and non-Pelger rabbits]. Acta Haematol 10:96-105, 1953. Pubmed reference: 13091700.
1952 Harm, H. :
Beitrage zur Morphologic und Gtnetik der Pelger-Anomalie bei Mensch und Kaninchen [Morphology and genetics of the Pelger anomaly in man and the rabbit] Zeitschrift fur menschliche Vererbungs- und Konstitutionslehre 30:501-539, 1952.
1950 Nachtsheim, H. :
The Pelger-anomaly in man and rabbit; a mendelian character of the nuclei of the leucocytes. J Hered 41:131-7, 1950. Pubmed reference: 15436969.
1949 Klein, H. :
Die Pelger-Anomalie der Leukocyten und die pathologische Anatomie des neugeborenen homozygoten Pelger-Kaninchens Zeitschrift fur menschliche Vererbungs- und Konstitutionslehre 29:551-620, 1949.
1943 Undritz, E. :
Das ausschliessliche Vorkommen reifer rundkerniger Leukozyten bei der reingezüchteten Pelger−Huëtschen Anomalie des Kaninchens und die Bedeutung der Pelger−Leukozyten in der vergleichenden Hämatologie. Folia Haemat. 67:249−291, 1943.
1939 Undritz, E. :
Das Pelger-Huetsche Blutbild beim Tier und seine Bedeutung fiir die Entwicklungsgeschichte des Blutes Schweizerische medizinische Wochenschrift 69:1177-1186, 1939.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 28 Apr 2016
  • Changed by Frank Nicholas on 02 May 2016
  • Changed by Tosso Leeb on 26 May 2020