Osteogenesis Imperfecta in Two Litters of Dachshunds

Seeliger, Frank; Leeb, Tosso; Peters, Maire; Brügmann, M.; Fehr, Michael; Hewicker‐Trautwein, M.

doi:10.1354/vp.40-5-530

Cited by 31 publications

(29 citation statements)

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“…For other canine OI cases the underlying genetic defect has not been elucidated. We have observed a severe form of OI in rough-coated Dachshunds that is inherited as a monogenic autosomal recessive trait [13]. In our initial analysis of the OI Dachshunds we did not find any mutations in the COL1A1 or COL1A2 genes.…”

Section: Introductionmentioning

confidence: 78%

“…We speculate that the p.L326P mutation in OI affected dogs probably does not represent a complete null allele but has some residual activity, which results in live-born dogs with a severe form of OI instead of the embryonic lethality seen in Serpinh1 knock-out mice. The phenotype of OI affected dogs primarily indicates a deficiency in collagen I, the most abundant collagen, whereas basal membranes, which contain collagen IV, do not seem to be severely altered [13].…”

Section: Discussionmentioning

confidence: 99%

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A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta

et al. 2009

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Osteogenesis imperfecta (OI) is a hereditary disease occurring in humans and dogs. It is characterized by extremely fragile bones and teeth. Most human and some canine OI cases are caused by mutations in the COL1A1 and COL1A2 genes encoding the subunits of collagen I. Recently, mutations in the CRTAP and LEPRE1 genes were found to cause some rare forms of human OI. Many OI cases exist where the causative mutation has not yet been found. We investigated Dachshunds with an autosomal recessive form of OI. Genotyping only five affected dogs on the 50 k canine SNP chip allowed us to localize the causative mutation to a 5.82 Mb interval on chromosome 21 by homozygosity mapping. Haplotype analysis of five additional carriers narrowed the interval further down to 4.74 Mb. The SERPINH1 gene is located within this interval and encodes an essential chaperone involved in the correct folding of the collagen triple helix. Therefore, we considered SERPINH1 a positional and functional candidate gene and performed mutation analysis in affected and control Dachshunds. A missense mutation (c.977C>T, p.L326P) located in an evolutionary conserved domain was perfectly associated with the OI phenotype. We thus have identified a candidate causative mutation for OI in Dachshunds and identified a fifth OI gene.

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Section: Introductionmentioning

confidence: 78%

Section: Discussionmentioning

confidence: 99%

A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta

et al. 2009

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“…Further testing such as parathyroid hormone levels, parathyroid related peptide levels, vitamin D and Vitamin A levels were not tested for in this dog but could be performed to investigate potential causes of generalised osteopenia as part of a detailed approach for this specific case presentation. Other differentials included osteogenesis imperfecta, which is a rare genetic disorder characterised by a severe, non-metabolic osteopenia with spontaneous fractures, however it has been seen to mainly affect dogs much earlier in life (Seeliger and others 2003). …”

Section: Discussionmentioning

confidence: 99%

“…Potential underlying causes for generalised vertebral anomalies and osteoporosis included lysosomal storage diseases such as; mucopolysacharidosis (MPS), GM (Monosialotetrahexosylganglioside) 1-gangliosidosis; other rare genetic disorders such as osteogenesis imperfecta (Seeliger and others 2003); nutritional disorders such as nutritional hyperparathyroidism, hypovitaminosis A, hypervitaminosis D, copper deficiency, zinc responsive chondrodysplasia and metabolic disorders such as primary/renal hyperparathyroidism (Johnson 2010). …”

Section: Differential Diagnosismentioning

confidence: 99%

Generalised vertebral abnormalities in a Rhodesian ridgeback with a lysosomal storage disease

Harris¹,

Beck²,

Calahan³

et al. 2016

Vet Record Case Reports

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A 3-year, 11-month male neutered Rhodesian ridgeback presented for evaluation of cervical hyperaesthesia, generalised ataxia and right thoracic limb lameness. Neurological examination was suggestive of a lesion affecting the C1–C5 spinal cord segments. MRI of the neck identified an irregularly shaped and shortened vertebral body of C6, a mild subluxation between C5 and C6, multiple hypertrophic and abnormally shaped articular processes, and multiple dorsal lamina abnormalities. CT confirmed these findings and revealed additionally multiple visible fracture lines and identified the axial and appendicular skeleton to be characterised by abnormally hypoattenuating cancellous bone and a thin cortex. The dog was euthanased and a postmortem examination confirmed generalised osteoporosis, vertebral malformations and identified distended and swollen neurons in the cerebrum, hippocampus, cerebellum and brainstem, containing intracytoplasmic, granular, PAS-positive inclusions. These findings were considered consistent with a lysosomal storage disease, with a presumptive diagnosis of mucopolysacharidosis being most likely.

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“…A causa predominante de OI é resultante de mutações autossômicas dominantes nos genes que codificam o colágeno tipo I (COL1A1 e COL1A2) [16]. A doença foi descrita anteriormente em bovinos [2], ovinos [4], felinos domésticos [24], camundongos [10], tigres [12] e cães das raças Collie [17], Golden Retriever [8], Beagle [9] e Dachshund [18]. Segundo Campbell et al [8], a OI canina e humana parecem homólogas em termos de apresentação clínica, etiologia e patogênese.…”

Section: Introductionunclassified

Osteogênese Imperfeita em cão jovem da raça pinscher

Costa¹,

Custódio²,

Ebina³

et al. 2018

Acta Scientiae. Vet.

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Background: Osteogenesis imperfecta is a severe genetic disease rarely described in veterinary medicine. This multisystemic condition is caused by a defect in the production and metabolization of collagen, which implicates in bone fragility. This disease has been described in cattle, sheep, domestic felines, mouse and dogs of different breeds, including collie, golden retriever, beagle, dachshund and chow chow. Animals affected by this condition present multiple fractures without previous occurrence of trauma. Therefore, this report aimed to describe a case of osteogenesis imperfecta type III in a miniature pinscher dog.Case: A 1-year-old male miniature pinscher dog, was admitted for clinical evaluation in Fortaleza, Brazil, with a history of spontaneous fractures without known causes. This animal was maintained indoors, fed on dry feed and presented recurrent events of claudication and pain. In the physical examination, the individual walked solely with the forelimbs, avoiding the use of the hind limbs and presented pain behavior. Bulging of the skull was observed laterally, which promoted a triangular appearance of head and face. Fontanelles were soft, and the eyes presented blueish sclera and corneal opacity. Teeth were small, translucid, fragile and deformed. Radiography images revealed bulging of the calvaria and persistent fontanelles with open cranial sutures. In addition, cranial convolutions were less clear, which was compatible with hydrocephalus. Dental roots were narrow, short and presented partial pulp obliteration. The radiographic contrast of the dentin was low with a reduction of periapical radiolucency. Bone radiopacity was low in the bones of the abdomen and pelvis, in addition to femur. Metaphysis of the right tibia was enlarged and angular. Multiple fractures were identified in the pelvis with the formation of opaque bony calluses and bone marrow sclerosis. Physiological parameters and blood test results were unaltered. After the diagnosis of osteogenesis imperfecta type III, treatment was performed with meloxicam 0.1 mg/kg, SID, VO) and tramadol (2 mg/kg, TID, VO) until pain was controlled. When the patient was stable, the treatment was halted until the next event of fractures followed by pain.Discussion: Type I collagen is considered the most abundant protein in connective tissue, accounting for 95% of the various types of collagen found in bone tissue. In osteogenesis imperfecta, there is a shortage in coding of type I collagen, which prevents this protein from exerting its structural functions properly. In addition, it is subjected to intra and extracellular degradation, affecting cell migration and differentiation and, concomitantly, cell-matrix interaction. Hence, these changes are considered the main pathophysiological factors of osteogenesis imperfecta. There is a wide range of phenotypic presentations in individuals with osteogenesis imperfecta. However, there is a pattern of fractures and features that aid clinically and radiologically in the characterization of the disease and form the basis for case identification and diagnosis. In this case, the diagnosis was concluded primarily considering significant clinical signs, such as: repetitive fractures, triangular face, bulging of the skull, bluish sclera and corneal opacity. Radiographic examinations were used to confirm the diagnosis and to aid in treating the fractures. Although the genetic test provides a better understanding of the disease, it was not performed in this case, as it is routinely unavailable in many treatment centers. In conclusion, we described a case of osteogenesis imperfecta in a miniature pinscher dog.

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Osteogenesis Imperfecta in Two Litters of Dachshunds

Cited by 31 publications

References 32 publications

A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta

A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta

Generalised vertebral abnormalities in a Rhodesian ridgeback with a lysosomal storage disease

Osteogênese Imperfeita em cão jovem da raça pinscher

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