Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs
Abstract Rickets is a disorder of bone development and can be the result of either dietary or genetic causes. Here, related pugs from 2 litters were included. Three pugs had clinical signs including, lameness, bone deformities, and dyspnea. One other pug was found dead. Radiographs of 2 affected pug...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2023-07-01
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| Series: | Journal of Veterinary Internal Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1111/jvim.16791 |
| _version_ | 1797773408387203072 |
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| author | Cecilia Rohdin Chao Wang Gustaf Brander Veronica Rondahl Åsa Karlsson Lisa Friling Anthony Fischetti Jennifer Meadows Jens Häggström Karin Hultin Jäderlund Ingrid Ljungvall Kerstin Lindblad‐Toh |
| author_facet | Cecilia Rohdin Chao Wang Gustaf Brander Veronica Rondahl Åsa Karlsson Lisa Friling Anthony Fischetti Jennifer Meadows Jens Häggström Karin Hultin Jäderlund Ingrid Ljungvall Kerstin Lindblad‐Toh |
| author_sort | Cecilia Rohdin |
| collection | DOAJ |
| description | Abstract Rickets is a disorder of bone development and can be the result of either dietary or genetic causes. Here, related pugs from 2 litters were included. Three pugs had clinical signs including, lameness, bone deformities, and dyspnea. One other pug was found dead. Radiographs of 2 affected pugs, 5 and 6 months old, showed generalized widening, and irregular margination of the physes of both the appendicular and the axial skeleton with generalized decrease in bone opacity and bulbous swelling of the costochondral junctions. Two pugs had low serum calcium and 1,25 (OH)2D3 concentrations. Test results further indicated secondary hyperparathyroidism with adequate concentrations of 25‐hydroxyvitamin D. Necropsy revealed tongue‐like projections of cartilage extending into the metaphysis consistent with rickets, loss of metaphyseal mineralization and lung pathology. Vitamin D‐dependent rickets was diagnosed. A truncating mutation in the 1α‐hydroxylase gene (CYP27B1) was identified by genome sequence analysis of the pugs with VDDR type 1A. Vitamin D‐dependent rickets type 1A can occur in young pugs, and if left untreated is a life‐threatening condition. Early medical intervention can reverse clinical signs and should be instituted as soon as possible. |
| first_indexed | 2024-03-12T22:05:03Z |
| format | Article |
| id | doaj.art-65907c8dd5204c1abeae34e96a2b91a2 |
| institution | Directory Open Access Journal |
| issn | 0891-6640 1939-1676 |
| language | English |
| last_indexed | 2024-03-12T22:05:03Z |
| publishDate | 2023-07-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Veterinary Internal Medicine |
| spelling | doaj.art-65907c8dd5204c1abeae34e96a2b91a22023-07-24T15:52:41ZengWileyJournal of Veterinary Internal Medicine0891-66401939-16762023-07-013741507151310.1111/jvim.16791Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugsCecilia Rohdin0Chao Wang1Gustaf Brander2Veronica Rondahl3Åsa Karlsson4Lisa Friling5Anthony Fischetti6Jennifer Meadows7Jens Häggström8Karin Hultin Jäderlund9Ingrid Ljungvall10Kerstin Lindblad‐Toh11Department of Clinical Sciences Swedish University of Agricultural Science Uppsala SwedenDepartment of Medical Biochemistry and Microbiology Science for Life Laboratory Uppsala SwedenBroad Institute of MIT and Harvard Cambridge Massachusetts USABiovet Sollentuna SwedenDepartment of Medical Biochemistry and Microbiology Science for Life Laboratory Uppsala SwedenAniCura Djursjukhuset Albano Ringgold Standard Institution Danderyd SwedenDepartment of Diagnostic Imaging, Animal Medical Center New York New York USADepartment of Medical Biochemistry and Microbiology Science for Life Laboratory Uppsala SwedenDepartment of Clinical Sciences Swedish University of Agricultural Science Uppsala SwedenDepartment of Companion Animal Clinical Sciences Norges Miljo‐ og Biovitenskapelige Universitet Fakultet for Veterinarmedisin og Biovitenskap Oslo NorwayDepartment of Clinical Sciences Swedish University of Agricultural Science Uppsala SwedenBroad Institute of MIT and Harvard Cambridge Massachusetts USAAbstract Rickets is a disorder of bone development and can be the result of either dietary or genetic causes. Here, related pugs from 2 litters were included. Three pugs had clinical signs including, lameness, bone deformities, and dyspnea. One other pug was found dead. Radiographs of 2 affected pugs, 5 and 6 months old, showed generalized widening, and irregular margination of the physes of both the appendicular and the axial skeleton with generalized decrease in bone opacity and bulbous swelling of the costochondral junctions. Two pugs had low serum calcium and 1,25 (OH)2D3 concentrations. Test results further indicated secondary hyperparathyroidism with adequate concentrations of 25‐hydroxyvitamin D. Necropsy revealed tongue‐like projections of cartilage extending into the metaphysis consistent with rickets, loss of metaphyseal mineralization and lung pathology. Vitamin D‐dependent rickets was diagnosed. A truncating mutation in the 1α‐hydroxylase gene (CYP27B1) was identified by genome sequence analysis of the pugs with VDDR type 1A. Vitamin D‐dependent rickets type 1A can occur in young pugs, and if left untreated is a life‐threatening condition. Early medical intervention can reverse clinical signs and should be instituted as soon as possible.https://doi.org/10.1111/jvim.16791bonehypocalcemiapugvitamin D |
| spellingShingle | Cecilia Rohdin Chao Wang Gustaf Brander Veronica Rondahl Åsa Karlsson Lisa Friling Anthony Fischetti Jennifer Meadows Jens Häggström Karin Hultin Jäderlund Ingrid Ljungvall Kerstin Lindblad‐Toh Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs Journal of Veterinary Internal Medicine bone hypocalcemia pug vitamin D |
| title | Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs |
| title_full | Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs |
| title_fullStr | Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs |
| title_full_unstemmed | Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs |
| title_short | Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs |
| title_sort | mutations in the cyp27b1 gene cause vitamin d dependent rickets in pugs |
| topic | bone hypocalcemia pug vitamin D |
| url | https://doi.org/10.1111/jvim.16791 |
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