Generate QR code
Open Access
Subscription Access
Clinical case of the new variant in the COL1A1 gene in the family with osteogenesis imperfecta type I
https://doi.org/10.25557/2073-7998.2025.06.52-54
Abstract
Osteogenesis imperfecta type I is an autosomal dominant generalized connective tissue disorder predominantly characterized by bone fragility. We describe a familial case of osteogenesis imperfecta type I caused by a novel splice site variant c.2028+1G>A of the COL1A1 1gene.
Supporting agencies: The study was carried out according to the state assignment of the Ministry of Science and Higher Education of the Russian Federation № 122013100190-6.
About the Authors
I. Zh. Zhalsanova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
E. A. Fonova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
A. A. Zarubin
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
V. V. Petrova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
A. A. Agafonova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
G. N. Seitova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
N. N. Chekanov
Biotechnological Campus LLC
Russian Federation
Russian Federation
16/10, k. 16, Miklukho-Maklaya st., Moscow, 117437
N. A. Skryabin
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
References
1. Forlino A., Marini J.C. Osteogenesis imperfecta. Lancet (London, England). NIH Public Access. 2016; 387(10028):1657.
2. Marini J.C., Do A.N.D. Osteogenesis Imperfecta. MDText.com, Inc. 2020.
3. Ryzhkova O.P., Kardymon O.L., Prohorchuk E.B., et al. Rukovodstvo po interpretatsii dannykh posledovatel’nosti DNK cheloveka, poluchennykh metodami massovogo parallel’nogo sekvenirovaniya (MPS) (redaktsiya 2018, versiya 2) [Guidelines for the interpretation of massive parallel sequencing variants (update 2018, v2)]. Meditsinskaya genetika [Medical Genetics]. 2019; 18(2): 3-23. (In Russ.)
Review
For citations:
Zhalsanova I.Zh., Fonova E.A., Zarubin A.A., Petrova V.V., Agafonova A.A., Seitova G.N., Chekanov N.N., Skryabin N.A. Clinical case of the new variant in the COL1A1 gene in the family with osteogenesis imperfecta type I. Medical Genetics. 2025;24(6):52-54. (In Russ.) https://doi.org/10.25557/2073-7998.2025.06.52-54
Views:
8
Email this article 