Population screening for the mutation associated with osteogenesis imperfecta in dachshunds

  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},
  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
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes
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
Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom
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Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta
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
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
Osteogenesis and dentinogenesis imperfecta in a four-month-old English mastiff
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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True Colors: commercially-acquired morphological genotypes reveal hidden allele variation among dog breeds, informing both trait ancestry and breed potential
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
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


A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta
A candidate causative mutation for OI in Dachshunds is identified and a fifth OI gene is identified located within this interval and encodes an essential chaperone involved in the correct folding of the collagen triple helix. Expand
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
Next-generation sequencing is applied to analyze the exome of a single individual who has a severe form of OI and whose parents are second cousins to provide genetic evidence for PEDF involvement in human bone homeostasis. Expand
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
Findings suggest that HSP47 monitors the integrity of the triple helix of type I procollagen at the ER/cis-Golgi boundary and, when absent, the rate of transit from the ER to the Golgi is increased and helical structure is compromised. Expand
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The data on genotype–phenotype relationships indicate that the two collagen chains play very different roles in matrix integrity and that phenotype depends on intracellular and extracellular events. Expand
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
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Canine COL1A2 Mutation Resulting in C‐Terminal Truncation of Pro‐α2(I) and Severe Osteogenesis Imperfecta
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CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta
In humans, CRTAP mutations are associated with the clinical spectrum of recessive osteogenesis imperfecta, including the type II and VII forms, and dysregulation of prolyl 3-hydroxylation is a mechanism for connective tissue disease. Expand