Article

Pelger–Huët Anomaly in Australian Shepherds: 87 Cases (1991–1997)

University of Georgia, Атина, Georgia, United States
Comparative Haematology International 06/2000; 10(1):9-13. DOI: 10.1007/s005800070021

ABSTRACT Blood smears from 892 Australian shepherds were evaluated for the presence of Pelger–Hue¨t (P-H) anomaly over a 6-year period.
During the study, 87 dogs were diagnosed with P-H anomaly (9.8% incidence) following microscopic examination of Wright–Leishman–stained
blood smears. Granulocytes from dogs with P-H anomaly had nuclear hyposegmentation resembling bands and metamyelocytes; however,
the chromatin pattern was more aggregated than that observed in mature segmenters. The granulocyte morphology of dogs with
P-H anomaly was similar to that described for humans and rabbits with the heterozygous form of P-H anomaly. Where gender was
known, 9.4% of males and 8.8% of females had P-H anomaly, indicating autosomal transmittance of the trait. None of the dogs
with P-H anomaly had a predominance of granulocytes with round to oval nuclei (myelocytes) and an extremely coarse chromatin
pattern, suggestive of the homozygous form of the anomaly. Because this phenotype was not observed in Australian shepherds,
the homozygous form of P-H anomaly may be a lethal trait in utero. Six dogs with P-H anomaly had parents with a normal leucocyte
phenotype. In addition, the incidence of P-H anomaly in F1 puppies from matings of individuals with normal and P-H phenotypes
was less than expected. These observations strongly suggest that P-H anomaly is transmitted as an autosomal dominant trait
with incomplete or decreased penetrance in Australian shepherds. Transmittance of P-H anomaly in this breed of dogs may be
governed by more than one allele or expression of the anomaly may modified by genes at a different locus or loci.

1 Follower
 · 
216 Views
  • [Show abstract] [Hide abstract]
    ABSTRACT: The Lamin B receptor (LBR) gene has been described to encode a bifunctional protein. Mutations in the LBR gene can affect neutrophil segmentation and sterol reductase activity and have been associated with two different recognized clinical conditions, Pelger-Huet anomaly (PHA) and Greenberg skeletal dysplasia. PHA is a benign autosomal co-dominant laminopathy resulting in bilobed neutrophil nuclei in heterozygotes, and unsegmented (ovoid) neutrophil nuclei in homozygotes. Some putative PHA homozygotes have been reported with minor skeletal malformations. Greenberg skeletal dysplasia is a severe autosomal recessive, perinatal lethal dwarfing disorder in which heterozygous carriers are usually without clinical manifestations. We here report a girl who has bilobed neutrophil nuclei and a mild skeletal dysplasia. Mutation analysis showed two novel mutations in the LBR gene: c.651_653 delinsTGATGAGAAA (p.Ile218Aspfs*19) and c.1757G > A (p.Arg586His). These mutations were found to be in trans, and, thus, she is a compound heterozygote. Sterol analysis found trace amounts of cholesta-8,14-dien-3beta-ol, which is normally undetected in healthy individuals. This and previously reported cases suggest that mutations in LBR can result in a continuum of phenotypic manifestations. © 2013 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 08/2013; 161(8). DOI:10.1002/ajmg.a.36019 · 2.05 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Pelger-Huët anomaly is an inherited disorder of maturation of myeloid cells, in particular granulocytes and monocytes. Nucleus hyposegmentation, respectively hypolobulation of these cells is the hallmark of Pelger- Huët anomaly. This anomaly is often misinterpreted as inflammatory disease or preleukemic syndrome, which can lead to unnecessary diagnostics and treatment. This case report describes Pelger-Huët anomaly in a two-month-old female Australian Shepherd and is focused on clinical importance, diagnosis, and grading of this anomaly.
    Veterinár̆ství 10/2014; 64:739-743.
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: A 13 year old Danish/Swedish Farmdog from Denmark was evaluated in a veterinary clinic in Warsaw, Poland for evaluation of an orthopedic problem. Radiographs revealed spondylosis and degenerative vertebral disease, which responded to treatment with anti-inflammatory medications. A predominance of hyposegmented neutrophils and eosinophils containing condensed chromatin and normal cytoplasm were identified on a routine CBC. Follow-up blood film evaluations over the course of 12 months confirmed that the hyposegmented granulocytes persisted. The majority of neutrophils contained Grade 2 nuclei (slightly indented), and the mean nuclear score varied from 1.9 to 2.3. Pelger-Huët anomaly (PHA), presumably congenital, was diagnosed based on persistent hyposegmented granulocytes in the absence of an underlying cause for acquired PHA; genetically related dogs were unavailable for testing to confirm vertical transmission. To the authors' knowledge this is the first report of PHA in a Danish/Swedish Farmdog.
    Acta Veterinaria Scandinavica 03/2011; 53(1):14. DOI:10.1186/1751-0147-53-14 · 1.00 Impact Factor