Population screening for the mutation associated with osteogenesis imperfecta in dachshunds

@article{Eckardt2013PopulationSF,
  title={Population screening for the mutation associated with osteogenesis imperfecta in dachshunds},
  author={Judith Eckardt and Susanne Kluth and Claudia Dierks and Ute Philipp and Ottmar Distl},
  journal={Veterinary Record},
  year={2013},
  volume={172},
  pages={364 - 364}
}
Osteogenesis imperfecta (OI) is a genetic disorder causing defects in the development of collagen type I. Clinical signs of affected dachshunds include multiple fractures of bones, joint hyperlaxity and dentinogenesis imperfecta. Recently, a recessive mutation in the SERPINH1 gene was detected in dachshunds and enabled the development of a DNA test to identify dachshunds carrying the mutation. The purpose of the present study was to analyse the dachshund breeding population for the frequency of… Expand
10 Citations
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The most recent advances in the understanding of processes involved in abnormal bone mineralization, collagen processing and osteoblast function are described, as illustrated by the characterization of new causative genes for OI and OI‐related fragility syndromes. Expand
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A family with non‐consanguineous unaffected parents who had two children with moderate short stature, low bone density, and fractures was identified, and the mRNA encoded by the second allele represented about 50% of that from the frameshift‐containing allele. Expand
Osteogenesis imperfecta in dachshunds
TLDR
The recently published paper by Eckardt and others (2013), reporting the allele frequencies of the mutation causing osteogenesis imperfecta (OI) in dachshunds noticed that the allele frequency had already been published a year ago. Expand
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Osteogenesis imperfecta should be considered as a cause of diffuse osteopenia in young dogs with multiple chronic and acute skeletal fractures. Expand
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Various forms of feline hyperparathyroidism are described, encompassing diagnosis and treatment options, and a review of PTH measurement and interpretation is introduced. Expand
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This work demonstrates that the occurrence of low frequency alleles within breeds can reveal the influence of regional or functional selection practices; it is possible to trace the mode by which characteristics have spread across breeds during historical breed formation; and the necessity of addressing conflicting ideals in breed descriptions relative to actual genetic potential is crucial. Expand
True Colors: Commercially-acquired morphological genotypes reveal hidden allele variation among dog breeds, informing both trait ancestry and breed potential
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The occurrence of low frequency alleles within breeds can reveal the influence of regional or functional selection practices, and it is possible to visualize the potential historic connections between breeds that share rare alleles, demonstrating the necessity of addressing conflicting ideals in breed descriptions relative to actual genetic potential is crucial. Expand
Two Dogs with Osteogenesis Imperfecta
Kensuke FURUTA1, 5)*, Shunji ISHII2), Ayaka ARAI3), Saori OKUTOMI4) and Iwao SAKONJYU5) 1) Yokohama-Aoba Animal Hospital: 1-8-3 1F Nakagawa-Chuo, Tuzuki-ku, Yokohama-shi, Kanagawa 224-0003, Japan 2)Expand
J. Eckardt, S. Kluth, C. Dierks, U. Philipp and O. Distl comment
We regret sincerely not citing Schutz and others (2012) but, unfortunately, we did not come across their publication when browsing PubMed or similar search engines (possibly due to the fact that itExpand

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