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Identification of the classic type of Ehlers-Danlos syndrome
https://doi.org/10.25557/2073-7998.2025.11.120-122
Abstract
Background. Ehlers–Danlos syndrome (EDS) is an inherited connective tissue disorder most commonly associated with mutations in type V collagen genes. However, data on the spectrum of hereditary variants among patients from Russia remain fragmentary.
Aim: to identify mutations in type V collagen genes in patients with Ehlers–Danlos syndrome from the Republic of Bashkortostan.
Methods. DNA samples from 43 patients (mean age 28.6 ± 7.44 years) representing 37 families with Ehlers–Danlos syndrome residing in the Republic of Bashkortostan were analyzed.
Results. Five nucleotide sequence alterations were detected in the COL5A1 gene and three in the COL5A2 gene. Pathogenic variants c.212delC (p.Pro71ArgfsTer33) and c.4135C>T (p.Pro1379Ser) in COL5A1 were identified, which have not been previously described in the literature.
Conclusions. Mutations were identified in eight unrelated families with EDS from the Republic of Bashkortostan. In total, five nucleotide sequence alterations were found in the COL5A1 gene and three in the COL5A2 gene.
Supporting agencies: This study was supported by the Russian Science Foundation, grant No. 25-75-00057 (https://rscf.ru/project/25-75-00057)
About the Authors
A. V. Tyurin
Bashkir State Medical University
Russian Federation
Russian Federation
3, Lenin st., Ufa, 450008
K. E. Ahiiarova
Bashkir State Medical University
Russian Federation
Russian Federation
3, Lenin st., Ufa, 450008
R. I. Khusainova
Bashkir State Medical University
Russian Federation
Russian Federation
3, Lenin st., Ufa, 450008
References
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2. Symoens S., Syx D., Malfait F., et al. Comprehensive Molecular Analysis Demonstrates Type V Collagen Mutations in over 90% of Patients with Classic EDS and Allows to Refine Diagnostic Criteria. Hum. Mutat. 2012; 33: 1485–1493, doi:10.1002/humu.22137.
3. Malfait F., Coucke P., Symoens S., et al. The Molecular Basis of Classic Ehlers-Danlos Syndrome: A Comprehensive Study of Biochemical and Molecular Findings in 48 Unrelated Patients. Hum. Mutat. 2005; 25: 28–37, doi:10.1002/humu.20107.
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Review
For citations:
Tyurin A.V., Ahiiarova K.E., Khusainova R.I. Identification of the classic type of Ehlers-Danlos syndrome. Medical Genetics. 2025;24(11):120-122. (In Russ.) https://doi.org/10.25557/2073-7998.2025.11.120-122
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