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Role of rs193922155 in the etiopathogenesis of osteogenesis imperfecta with description of the phenotype: A case report

INTRODUCTION: Osteogenesis imperfecta (OI) is a disorder of the connective tissue that mainly causes the bones to become excessively brittle. The vast majority of OI cases are associated with mutations in the genes encoding the I alpha. PATIENT CONCERNS: A 57-year-old woman office worker was admitte...

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Autores principales: Płomiński, Janusz, Szwabowicz, Marek, Fiedorowicz, Ewa, Grzybowski, Roman, Latacz, Maria, Cieślińska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8389867/
https://www.ncbi.nlm.nih.gov/pubmed/34449476
http://dx.doi.org/10.1097/MD.0000000000027021
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author Płomiński, Janusz
Szwabowicz, Marek
Fiedorowicz, Ewa
Grzybowski, Roman
Latacz, Maria
Cieślińska, Anna
author_facet Płomiński, Janusz
Szwabowicz, Marek
Fiedorowicz, Ewa
Grzybowski, Roman
Latacz, Maria
Cieślińska, Anna
author_sort Płomiński, Janusz
collection PubMed
description INTRODUCTION: Osteogenesis imperfecta (OI) is a disorder of the connective tissue that mainly causes the bones to become excessively brittle. The vast majority of OI cases are associated with mutations in the genes encoding the I alpha. PATIENT CONCERNS: A 57-year-old woman office worker was admitted because of severe, long-lasting pain in the thoracic spine while bending down. She and her daughter have a history of multiple atraumatic fractures form early childhood. DIAGNOSIS: Both women were pre-diagnosed with OI based on their phenotype. The genetic testing has shown single nucleotide polymorphism (rs193922155) in the gene encoding the collagen type I alpha 1 which until now was only likely pathogenic. INTERVENTIONS: Bone mineral density measurement revealed osteoporosis. The mother was prescribed with Vitamin D3 and calcium supplementation, but the daughter does not take any medication. The mother had vertebroplasty performed because of Th 9–12 vertebral body compression fractures. The cardiovascular diseases, spontaneous hematomas, joint dislocations were excluded. OUTCOMES: For mother postoperative pain reduction was achieved. CONCLUSION: To the best of our knowledge, this is the first publication that confirms the pathogenic effect of this mutation and describes the phenotype.
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spelling pubmed-83898672021-09-02 Role of rs193922155 in the etiopathogenesis of osteogenesis imperfecta with description of the phenotype: A case report Płomiński, Janusz Szwabowicz, Marek Fiedorowicz, Ewa Grzybowski, Roman Latacz, Maria Cieślińska, Anna Medicine (Baltimore) 4100 INTRODUCTION: Osteogenesis imperfecta (OI) is a disorder of the connective tissue that mainly causes the bones to become excessively brittle. The vast majority of OI cases are associated with mutations in the genes encoding the I alpha. PATIENT CONCERNS: A 57-year-old woman office worker was admitted because of severe, long-lasting pain in the thoracic spine while bending down. She and her daughter have a history of multiple atraumatic fractures form early childhood. DIAGNOSIS: Both women were pre-diagnosed with OI based on their phenotype. The genetic testing has shown single nucleotide polymorphism (rs193922155) in the gene encoding the collagen type I alpha 1 which until now was only likely pathogenic. INTERVENTIONS: Bone mineral density measurement revealed osteoporosis. The mother was prescribed with Vitamin D3 and calcium supplementation, but the daughter does not take any medication. The mother had vertebroplasty performed because of Th 9–12 vertebral body compression fractures. The cardiovascular diseases, spontaneous hematomas, joint dislocations were excluded. OUTCOMES: For mother postoperative pain reduction was achieved. CONCLUSION: To the best of our knowledge, this is the first publication that confirms the pathogenic effect of this mutation and describes the phenotype. Lippincott Williams & Wilkins 2021-08-27 /pmc/articles/PMC8389867/ /pubmed/34449476 http://dx.doi.org/10.1097/MD.0000000000027021 Text en Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0 (https://creativecommons.org/licenses/by/4.0/)
spellingShingle 4100
Płomiński, Janusz
Szwabowicz, Marek
Fiedorowicz, Ewa
Grzybowski, Roman
Latacz, Maria
Cieślińska, Anna
Role of rs193922155 in the etiopathogenesis of osteogenesis imperfecta with description of the phenotype: A case report
title Role of rs193922155 in the etiopathogenesis of osteogenesis imperfecta with description of the phenotype: A case report
title_full Role of rs193922155 in the etiopathogenesis of osteogenesis imperfecta with description of the phenotype: A case report
title_fullStr Role of rs193922155 in the etiopathogenesis of osteogenesis imperfecta with description of the phenotype: A case report
title_full_unstemmed Role of rs193922155 in the etiopathogenesis of osteogenesis imperfecta with description of the phenotype: A case report
title_short Role of rs193922155 in the etiopathogenesis of osteogenesis imperfecta with description of the phenotype: A case report
title_sort role of rs193922155 in the etiopathogenesis of osteogenesis imperfecta with description of the phenotype: a case report
topic 4100
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8389867/
https://www.ncbi.nlm.nih.gov/pubmed/34449476
http://dx.doi.org/10.1097/MD.0000000000027021
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