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H S Kooistra - One of the best experts on this subject based on the ideXlab platform.
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atlanto axial malformation and instability in dogs with Pituitary Dwarfism due to an lhx3 mutation
Journal of Veterinary Internal Medicine, 2015Co-Authors: Annemarie M W Y Voorbij, B P Meij, L W L Van Bruggen, Guy C M Grinwis, Q E M Stassen, H S KooistraAbstract:BACKGROUND: Canine Pituitary Dwarfism or combined Pituitary hormone deficiency (CPHD) in shepherd dogs is associated with an LHX3 mutation and can lead to a wide range of clinical manifestations. Some dogs with CPHD have neurological signs that are localized to the cervical spine. In human CPHD, caused by an LHX3 mutation, anatomical abnormalities in the atlanto-axial (C1-C2) joint have been described. OBJECTIVES: To evaluate the presence of atlanto-axial malformations in dogs with Pituitary Dwarfism associated with an LHX3 mutation and to investigate the degree of similarity between the atlanto-axial anomalies found in canine and human CPHD patients with an LHX3 mutation. ANIMALS: Three client-owned Czechoslovakian wolfdogs and 1 client-owned German shepherd dog, previously diagnosed with Pituitary Dwarfism caused by an LHX3 mutation, with neurological signs indicating a cervical spinal disorder. METHODS: Radiography, computed tomography, and magnetic resonance imaging of the cranial neck and skull, necropsy, and histology. RESULTS: Diagnostic imaging identified abnormal positioning of the dens axis and incomplete ossification of the suture lines between the ossification centers of the atlas with concurrent atlanto-axial instability and dynamic compression of the spinal cord by the dens axis. The malformations and aberrant motion at C1-C2 were confirmed at necropsy and histology. CONCLUSIONS AND CLINICAL IMPORTANCE: The atlanto-axial abnormalities of the dwarf dogs resemble those encountered in human CPHD patients with an LHX3 mutation. These findings suggest an association between the LHX3 mutation in dogs with CPHD and atlanto-axial malformations. Consequently, Pituitary dwarfs should be monitored closely for neurological signs.
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Pituitary Dwarfism in saarloos and czechoslovakian wolfdogs is associated with a mutation in lhx3
Journal of Veterinary Internal Medicine, 2014Co-Authors: Annemarie M W Y Voorbij, Peter A J Leegwater, H S KooistraAbstract:Background Pituitary Dwarfism in German Shepherd Dogs is associated with autosomal recessive inheritance and a mutation in LHX3, resulting in combined Pituitary hormone deficiency. Congenital Dwarfism also is encountered in breeds related to German Shepherd Dogs, such as Saarloos and Czechoslovakian wolfdogs. Objectives To investigate whether Saarloos and Czechoslovakian wolfdog dwarfs have the same LHX3 mutation as do Germans Shepherd Dog dwarfs. A specific aim was to determine the carrier frequency among Saarloos and Czechoslovakian wolfdogs used for breeding. Animals Two client-owned Saarloos wolfdogs and 4 client-owned Czechoslovakian wolfdogs with Pituitary Dwarfism, 239 clinically healthy client-owned Saarloos wolfdogs, and 200 client-owned clinically healthy Czechoslovakian wolfdogs. Methods Genomic DNA was amplified using polymerase chain reaction (PCR). In the Saarloos and Czechoslovakian wolfdog dwarfs, PCR products were analyzed by sequencing. DNA fragment length analysis was performed on the samples from the clinically healthy dogs. Results Saarloos and Czechoslovakian wolfdog dwarfs have the same 7 bp deletion in intron 5 of LHX3 as do German Shepherd Dog dwarfs. The frequency of carriers of this mutation among clinically healthy Saarloos and Czechoslovakian wolfdogs used for breeding was 31% and 21%, respectively. Conclusions and Clinical Importance An LHX3 mutation is associated with Pituitary Dwarfism in Saarloos and Czechoslovakian wolfdogs. The rather high frequency of carriers of the mutated gene in the 2 breeds emphasizes the need for screening before breeding. If all breeding animals were genetically tested for the presence of the LHX3 mutation and a correct breeding policy would be implemented, this disease could be eradicated completely.
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a contracted dna repeat in lhx3 intron 5 is associated with aberrant splicing and Pituitary Dwarfism in german shepherd dogs
PLOS ONE, 2011Co-Authors: Annemarie M W Y Voorbij, H S Kooistra, Frank G Van Steenbeek, Manon Vosloohuis, Ellen E C P Martens, Jeanette M Hansonnilsson, Bernard A Van Oost, Peter A J LeegwaterAbstract:Dwarfism in German shepherd dogs is due to combined Pituitary hormone deficiency of unknown genetic cause. We localized the recessively inherited defect by a genome wide approach to a region on chromosome 9 with a lod score of 9.8. The region contains LHX3, which codes for a transcription factor essential for Pituitary development. Dwarfs have a deletion of one of six 7 bp repeats in intron 5 of LHX3, reducing the intron size to 68 bp. One dwarf was compound heterozygous for the deletion and an insertion of an asparagine residue in the DNA-binding homeodomain of LHX3, suggesting involvement of the gene in the disorder. An exon trapping assay indicated that the shortened intron is not spliced efficiently, probably because it is too small. We applied bisulfite conversion of cytosine to uracil in RNA followed by RT-PCR to analyze the splicing products. The aberrantly spliced RNA molecules resulted from either skipping of exon 5 or retention of intron 5. The same splicing defects were observed in cDNA derived from the Pituitary of dwarfs. A survey of similarly mutated introns suggests that there is a minimal distance requirement between the splice donor and branch site of 50 nucleotides. In conclusion, a contraction of a DNA repeat in intron 5 of canine LHX3 leads to deficient splicing and is associated with Pituitary Dwarfism.
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Pituitary Dwarfism in 4 german shepherd dogs
Veterinaria (Cremona), 2010Co-Authors: Sara Corradini, A Voorbij, E Mercuriali, S Sella, H S Kooistra, Federico FracassiAbstract:Pituitary Dwarfism in German shepherd dogs is an autosomal, recessive inherited disorder cha-racterized by underdevelopment of the Pituitary and a deficiency of growth hormone, thyrotro-pin, prolactin, and the gonadotropins, but unaffected corticotropin secretion. Probably, a muta-tion of a gene encoding a transcription factor that precludes effective expansion of Pituitary stem cells after differentiation of the corticotropic cells is the cause of this disorder. Identifica-tion of the mutation would enable the development of a DNA test for potential breeding animals and could lead to the eradication of this condition. The main clinical manifestations of Pituitary Dwarfism are proportionate growth retardation and alopecia. Definite diagnosis should ideally rely on the results of a combined Pituitary anterior lobe function test. Although the prognosis improves significantly when dwarfs are properly treated with levo-thyroxine and either porcine growth hormone or progestins, the prognosis remains guarded.
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the leukemia inhibitory factor receptor gene is not involved in the etiology of Pituitary Dwarfism in german shepherd dogs
Research in Veterinary Science, 2006Co-Authors: J M Hanson, H S Kooistra, Peter A J Leegwater, B P MeijAbstract:Abstract Pituitary Dwarfism in German shepherd dogs is characterized by combined Pituitary hormone deficiency (CPHD) and intraPituitary cyst formation. Activation of the leukemia inhibitory factor (LIF)–LIF receptor (LIFR) signal transduction pathway results in a similar phenotype in (transgenic) mice. We therefore assessed the role of the LIFR in the etiology of Pituitary Dwarfism in German shepherd dogs. A polymorphic microsatellite marker (UULIFR) was used to analyze the segregation of the LIFR gene in 22 German shepherd dogs from 4 pedigrees, each including one dwarf. There was no allelic association between UULIFR and the Dwarfism phenotype. Based on our findings LIFR was excluded as a candidate gene for CPHD.
Qing Kenneth Wang - One of the best experts on this subject based on the ideXlab platform.
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identification of a novel splicing mutation in the growth hormone gh releasing hormone receptor gene in a chinese family with Pituitary Dwarfism
Molecular and Cellular Endocrinology, 2009Co-Authors: Qi Wang, Ying Diao, Zhenping Xu, Xiaohui Li, Haibo Xu, Ping Ouyang, Zhongli Hu, Qing Kenneth WangAbstract:Abstract A Chinese family with autosomal recessive Pituitary Dwarfism was identified and the proband was evaluated by MRI and hormonal analysis, which revealed Pituitary Dwarfism with a complete growth hormone deficiency. MRI showed a Pituitary gland with a small anterior Pituitary of 2.2 mm and evidence of hypoplastic Pituitary. Linkage analysis with markers spanning 17 known genes for Dwarfism revealed linkage of the family to the growth hormone-releasing hormone receptor (GHRHR) gene. Mutational analysis of all exons and exon–intron boundaries of GHRHR was carried out using direct DNA sequence analysis. A novel homozygosis mutation, a G to A transition located in the splice donor site at the beginning of intron 8 (IVS8+1G>A), was identified in the proband. The two other patients in the family are homozygous, whereas the living mother of the proband is heterozygous for the IVS8+1G>A mutation. The mutation was not found in 100 normal chromosomes from healthy Chinese individuals of Han nationality. An in vitro splicing assay using HeLa cells transfected with expression vectors containing the normal or the mutant GHRHR minigenes consisting of genomic fragments spanning exons 7–9 showed that the IVS8+1G>A mutation caused abnormal splicing, which is predicted to give rise to truncation or frameshift, leading to severely truncated GHRHR proteins. These results provide strong evidence that the splicing mutation IVS8+1G>A of GHRHR is a cause of Pituitary Dwarfism in the Chinese family.
Peter A J Leegwater - One of the best experts on this subject based on the ideXlab platform.
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Pituitary Dwarfism in saarloos and czechoslovakian wolfdogs is associated with a mutation in lhx3
Journal of Veterinary Internal Medicine, 2014Co-Authors: Annemarie M W Y Voorbij, Peter A J Leegwater, H S KooistraAbstract:Background Pituitary Dwarfism in German Shepherd Dogs is associated with autosomal recessive inheritance and a mutation in LHX3, resulting in combined Pituitary hormone deficiency. Congenital Dwarfism also is encountered in breeds related to German Shepherd Dogs, such as Saarloos and Czechoslovakian wolfdogs. Objectives To investigate whether Saarloos and Czechoslovakian wolfdog dwarfs have the same LHX3 mutation as do Germans Shepherd Dog dwarfs. A specific aim was to determine the carrier frequency among Saarloos and Czechoslovakian wolfdogs used for breeding. Animals Two client-owned Saarloos wolfdogs and 4 client-owned Czechoslovakian wolfdogs with Pituitary Dwarfism, 239 clinically healthy client-owned Saarloos wolfdogs, and 200 client-owned clinically healthy Czechoslovakian wolfdogs. Methods Genomic DNA was amplified using polymerase chain reaction (PCR). In the Saarloos and Czechoslovakian wolfdog dwarfs, PCR products were analyzed by sequencing. DNA fragment length analysis was performed on the samples from the clinically healthy dogs. Results Saarloos and Czechoslovakian wolfdog dwarfs have the same 7 bp deletion in intron 5 of LHX3 as do German Shepherd Dog dwarfs. The frequency of carriers of this mutation among clinically healthy Saarloos and Czechoslovakian wolfdogs used for breeding was 31% and 21%, respectively. Conclusions and Clinical Importance An LHX3 mutation is associated with Pituitary Dwarfism in Saarloos and Czechoslovakian wolfdogs. The rather high frequency of carriers of the mutated gene in the 2 breeds emphasizes the need for screening before breeding. If all breeding animals were genetically tested for the presence of the LHX3 mutation and a correct breeding policy would be implemented, this disease could be eradicated completely.
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a contracted dna repeat in lhx3 intron 5 is associated with aberrant splicing and Pituitary Dwarfism in german shepherd dogs
PLOS ONE, 2011Co-Authors: Annemarie M W Y Voorbij, H S Kooistra, Frank G Van Steenbeek, Manon Vosloohuis, Ellen E C P Martens, Jeanette M Hansonnilsson, Bernard A Van Oost, Peter A J LeegwaterAbstract:Dwarfism in German shepherd dogs is due to combined Pituitary hormone deficiency of unknown genetic cause. We localized the recessively inherited defect by a genome wide approach to a region on chromosome 9 with a lod score of 9.8. The region contains LHX3, which codes for a transcription factor essential for Pituitary development. Dwarfs have a deletion of one of six 7 bp repeats in intron 5 of LHX3, reducing the intron size to 68 bp. One dwarf was compound heterozygous for the deletion and an insertion of an asparagine residue in the DNA-binding homeodomain of LHX3, suggesting involvement of the gene in the disorder. An exon trapping assay indicated that the shortened intron is not spliced efficiently, probably because it is too small. We applied bisulfite conversion of cytosine to uracil in RNA followed by RT-PCR to analyze the splicing products. The aberrantly spliced RNA molecules resulted from either skipping of exon 5 or retention of intron 5. The same splicing defects were observed in cDNA derived from the Pituitary of dwarfs. A survey of similarly mutated introns suggests that there is a minimal distance requirement between the splice donor and branch site of 50 nucleotides. In conclusion, a contraction of a DNA repeat in intron 5 of canine LHX3 leads to deficient splicing and is associated with Pituitary Dwarfism.
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the leukemia inhibitory factor receptor gene is not involved in the etiology of Pituitary Dwarfism in german shepherd dogs
Research in Veterinary Science, 2006Co-Authors: J M Hanson, H S Kooistra, Peter A J Leegwater, B P MeijAbstract:Abstract Pituitary Dwarfism in German shepherd dogs is characterized by combined Pituitary hormone deficiency (CPHD) and intraPituitary cyst formation. Activation of the leukemia inhibitory factor (LIF)–LIF receptor (LIFR) signal transduction pathway results in a similar phenotype in (transgenic) mice. We therefore assessed the role of the LIFR in the etiology of Pituitary Dwarfism in German shepherd dogs. A polymorphic microsatellite marker (UULIFR) was used to analyze the segregation of the LIFR gene in 22 German shepherd dogs from 4 pedigrees, each including one dwarf. There was no allelic association between UULIFR and the Dwarfism phenotype. Based on our findings LIFR was excluded as a candidate gene for CPHD.
Annemarie M W Y Voorbij - One of the best experts on this subject based on the ideXlab platform.
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shedding light on canine Pituitary Dwarfism
2015Co-Authors: Annemarie M W Y VoorbijAbstract:Pituitary Dwarfism, associated with growth hormone deficiency, is an autosomal, recessively inherited disorder in shepherd dogs. Due to the serious nature of Pituitary Dwarfism and lack of efficient treatment, it is preferable to prevent dwarfs from being born by applying a correct breeding policy. However, because Pituitary Dwarfism is a recessively inherited disorder and carriers do not differ phenotypically from non-carriers, genetic testing is required to prevent mating of 2 carriers. But before such a DNA-test could be developed, the mutated gene had to be identified first. The results of this thesis show that a contraction of a 7-bp DNA repeat in intron 5 of canine LHX3 leads to deficient splicing and is associated with Pituitary Dwarfism in German shepherd dogs. Splicing of the mutant intron 5 is expected to be hampered by its reduced size. In humans, 3 different isoforms of LHX3 are known: LHX3a, LHX3b and M2-LHX3. Earlier in vitro studies concluded that LHX3a and M2-LHX3 are potent gene activators in humans and that LHX3b is not. In dogs, the predicted start codon of LHX3a is followed shortly by a stop codon, which makes LHX3a seem to be redundant in dogs. The function of exon 1 may be to circumvent exon 2 in order to direct production of isoform M2-LHX3, highlighting the significance of isoform M2-LHX3. The canine situation opens the possibility that also in other species the LHX3a isoform is redundant. Congenital Dwarfism associated with growth hormone deficiency is also known in Saarloos wolfdogs and Czechoslovakian wolfdogs. Both are German shepherd dog-wolf cross-breeds. These breeds have the same 7-bp deletion in intron 5 of LHX3 as do German shepherd dwarfs. The frequency of carriers of this mutation among clinically healthy Saarloos and Czechoslovakian wolfdogs used for breeding was 31% and 21%, respectively, emphasizing the need for screening before breeding. In canine Pituitary dwarfs with neurological signs indicative of a cervical problem, atlanto-axial abnormalities that resemble those encountered in human Pituitary dwarfs with an LHX3 mutation, were identified. These findings suggest an association between the LHX3 mutation in dogs with Pituitary Dwarfism and atlanto-axial malformations. The most important endocrine differential diagnosis of Pituitary Dwarfism due to growth hormone deficiency is juvenile hypothyroidism. Hypothyroidism can be classified as primary or central. In central hypothyroidism the thyroids are not affected primarily but are deprived of stimulation by thyroid-stimulating hormone. Primary hypothyroidism is a common endocrinopathy in dogs. In contrast, central hypothyroidism is rare in this species. The results of this thesis show that central hypothyroidism might be an underdiagnosed disorder that could be quite common in Miniature Schnauzers. The fact that this rare disorder occurred in 7 dogs from the same breed suggests that the disorder may have a genetic background in this breed. No mutations were found in the TSHB gene and the exons of the TRHR gene that could explain the presence of central hypothyroidism in Miniature Schnauzers.
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atlanto axial malformation and instability in dogs with Pituitary Dwarfism due to an lhx3 mutation
Journal of Veterinary Internal Medicine, 2015Co-Authors: Annemarie M W Y Voorbij, B P Meij, L W L Van Bruggen, Guy C M Grinwis, Q E M Stassen, H S KooistraAbstract:BACKGROUND: Canine Pituitary Dwarfism or combined Pituitary hormone deficiency (CPHD) in shepherd dogs is associated with an LHX3 mutation and can lead to a wide range of clinical manifestations. Some dogs with CPHD have neurological signs that are localized to the cervical spine. In human CPHD, caused by an LHX3 mutation, anatomical abnormalities in the atlanto-axial (C1-C2) joint have been described. OBJECTIVES: To evaluate the presence of atlanto-axial malformations in dogs with Pituitary Dwarfism associated with an LHX3 mutation and to investigate the degree of similarity between the atlanto-axial anomalies found in canine and human CPHD patients with an LHX3 mutation. ANIMALS: Three client-owned Czechoslovakian wolfdogs and 1 client-owned German shepherd dog, previously diagnosed with Pituitary Dwarfism caused by an LHX3 mutation, with neurological signs indicating a cervical spinal disorder. METHODS: Radiography, computed tomography, and magnetic resonance imaging of the cranial neck and skull, necropsy, and histology. RESULTS: Diagnostic imaging identified abnormal positioning of the dens axis and incomplete ossification of the suture lines between the ossification centers of the atlas with concurrent atlanto-axial instability and dynamic compression of the spinal cord by the dens axis. The malformations and aberrant motion at C1-C2 were confirmed at necropsy and histology. CONCLUSIONS AND CLINICAL IMPORTANCE: The atlanto-axial abnormalities of the dwarf dogs resemble those encountered in human CPHD patients with an LHX3 mutation. These findings suggest an association between the LHX3 mutation in dogs with CPHD and atlanto-axial malformations. Consequently, Pituitary dwarfs should be monitored closely for neurological signs.
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Pituitary Dwarfism in saarloos and czechoslovakian wolfdogs is associated with a mutation in lhx3
Journal of Veterinary Internal Medicine, 2014Co-Authors: Annemarie M W Y Voorbij, Peter A J Leegwater, H S KooistraAbstract:Background Pituitary Dwarfism in German Shepherd Dogs is associated with autosomal recessive inheritance and a mutation in LHX3, resulting in combined Pituitary hormone deficiency. Congenital Dwarfism also is encountered in breeds related to German Shepherd Dogs, such as Saarloos and Czechoslovakian wolfdogs. Objectives To investigate whether Saarloos and Czechoslovakian wolfdog dwarfs have the same LHX3 mutation as do Germans Shepherd Dog dwarfs. A specific aim was to determine the carrier frequency among Saarloos and Czechoslovakian wolfdogs used for breeding. Animals Two client-owned Saarloos wolfdogs and 4 client-owned Czechoslovakian wolfdogs with Pituitary Dwarfism, 239 clinically healthy client-owned Saarloos wolfdogs, and 200 client-owned clinically healthy Czechoslovakian wolfdogs. Methods Genomic DNA was amplified using polymerase chain reaction (PCR). In the Saarloos and Czechoslovakian wolfdog dwarfs, PCR products were analyzed by sequencing. DNA fragment length analysis was performed on the samples from the clinically healthy dogs. Results Saarloos and Czechoslovakian wolfdog dwarfs have the same 7 bp deletion in intron 5 of LHX3 as do German Shepherd Dog dwarfs. The frequency of carriers of this mutation among clinically healthy Saarloos and Czechoslovakian wolfdogs used for breeding was 31% and 21%, respectively. Conclusions and Clinical Importance An LHX3 mutation is associated with Pituitary Dwarfism in Saarloos and Czechoslovakian wolfdogs. The rather high frequency of carriers of the mutated gene in the 2 breeds emphasizes the need for screening before breeding. If all breeding animals were genetically tested for the presence of the LHX3 mutation and a correct breeding policy would be implemented, this disease could be eradicated completely.
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a contracted dna repeat in lhx3 intron 5 is associated with aberrant splicing and Pituitary Dwarfism in german shepherd dogs
PLOS ONE, 2011Co-Authors: Annemarie M W Y Voorbij, H S Kooistra, Frank G Van Steenbeek, Manon Vosloohuis, Ellen E C P Martens, Jeanette M Hansonnilsson, Bernard A Van Oost, Peter A J LeegwaterAbstract:Dwarfism in German shepherd dogs is due to combined Pituitary hormone deficiency of unknown genetic cause. We localized the recessively inherited defect by a genome wide approach to a region on chromosome 9 with a lod score of 9.8. The region contains LHX3, which codes for a transcription factor essential for Pituitary development. Dwarfs have a deletion of one of six 7 bp repeats in intron 5 of LHX3, reducing the intron size to 68 bp. One dwarf was compound heterozygous for the deletion and an insertion of an asparagine residue in the DNA-binding homeodomain of LHX3, suggesting involvement of the gene in the disorder. An exon trapping assay indicated that the shortened intron is not spliced efficiently, probably because it is too small. We applied bisulfite conversion of cytosine to uracil in RNA followed by RT-PCR to analyze the splicing products. The aberrantly spliced RNA molecules resulted from either skipping of exon 5 or retention of intron 5. The same splicing defects were observed in cDNA derived from the Pituitary of dwarfs. A survey of similarly mutated introns suggests that there is a minimal distance requirement between the splice donor and branch site of 50 nucleotides. In conclusion, a contraction of a DNA repeat in intron 5 of canine LHX3 leads to deficient splicing and is associated with Pituitary Dwarfism.
B P Meij - One of the best experts on this subject based on the ideXlab platform.
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atlanto axial malformation and instability in dogs with Pituitary Dwarfism due to an lhx3 mutation
Journal of Veterinary Internal Medicine, 2015Co-Authors: Annemarie M W Y Voorbij, B P Meij, L W L Van Bruggen, Guy C M Grinwis, Q E M Stassen, H S KooistraAbstract:BACKGROUND: Canine Pituitary Dwarfism or combined Pituitary hormone deficiency (CPHD) in shepherd dogs is associated with an LHX3 mutation and can lead to a wide range of clinical manifestations. Some dogs with CPHD have neurological signs that are localized to the cervical spine. In human CPHD, caused by an LHX3 mutation, anatomical abnormalities in the atlanto-axial (C1-C2) joint have been described. OBJECTIVES: To evaluate the presence of atlanto-axial malformations in dogs with Pituitary Dwarfism associated with an LHX3 mutation and to investigate the degree of similarity between the atlanto-axial anomalies found in canine and human CPHD patients with an LHX3 mutation. ANIMALS: Three client-owned Czechoslovakian wolfdogs and 1 client-owned German shepherd dog, previously diagnosed with Pituitary Dwarfism caused by an LHX3 mutation, with neurological signs indicating a cervical spinal disorder. METHODS: Radiography, computed tomography, and magnetic resonance imaging of the cranial neck and skull, necropsy, and histology. RESULTS: Diagnostic imaging identified abnormal positioning of the dens axis and incomplete ossification of the suture lines between the ossification centers of the atlas with concurrent atlanto-axial instability and dynamic compression of the spinal cord by the dens axis. The malformations and aberrant motion at C1-C2 were confirmed at necropsy and histology. CONCLUSIONS AND CLINICAL IMPORTANCE: The atlanto-axial abnormalities of the dwarf dogs resemble those encountered in human CPHD patients with an LHX3 mutation. These findings suggest an association between the LHX3 mutation in dogs with CPHD and atlanto-axial malformations. Consequently, Pituitary dwarfs should be monitored closely for neurological signs.
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the leukemia inhibitory factor receptor gene is not involved in the etiology of Pituitary Dwarfism in german shepherd dogs
Research in Veterinary Science, 2006Co-Authors: J M Hanson, H S Kooistra, Peter A J Leegwater, B P MeijAbstract:Abstract Pituitary Dwarfism in German shepherd dogs is characterized by combined Pituitary hormone deficiency (CPHD) and intraPituitary cyst formation. Activation of the leukemia inhibitory factor (LIF)–LIF receptor (LIFR) signal transduction pathway results in a similar phenotype in (transgenic) mice. We therefore assessed the role of the LIFR in the etiology of Pituitary Dwarfism in German shepherd dogs. A polymorphic microsatellite marker (UULIFR) was used to analyze the segregation of the LIFR gene in 22 German shepherd dogs from 4 pedigrees, each including one dwarf. There was no allelic association between UULIFR and the Dwarfism phenotype. Based on our findings LIFR was excluded as a candidate gene for CPHD.
