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Characteristics of a cohort of patients with hereditary arthrogryposis
https://doi.org/10.25557/2073-7998.2025.05.36-38
Abstract
The results of analyzing the efficiency of mass parallel sequencing methods for the diagnosis of hereditary arthrogryposis on the basis of a cohort of 227 patients are presented. It is shown that the use of a target gene panel, whole exome or genome sequencing allows to confirm the diagnosis in 69% of patients with clinical signs of arthrogryposis. The proportions of specific nosological groups of hereditary arthrogryposis were estimated. It was revealed that the neuromuscular arthrogryposis represents 42% of all diagnosed arthrogryposis, of which 76% are myogenic.
Supporting agencies: The study was carried out under the state assignment of the Ministry of Science and Higher Education for the Research Centre for Medical Genetics.
About the Authors
E. A. Melnik
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522, Russian Federation
T. V. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522, Russian Federation
O. E. Agranovich
G.I. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
Russian Federation
Russian Federation
64-68, Parkovaya st., Pushkin, Saint Petersburg, 196603, Russian Federation
S. I. Trofimova
G.I. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
Russian Federation
Russian Federation
64-68, Parkovaya st., Pushkin, Saint Petersburg, 196603, Russian Federation
O. P. Ryzhkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522, Russian Federation
E. L. Dadali
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522, Russian Federation
References
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Review
For citations:
Melnik E.A., Markova T.V., Agranovich O.E., Trofimova S.I., Ryzhkova O.P., Dadali E.L. Characteristics of a cohort of patients with hereditary arthrogryposis. Medical Genetics. 2025;24(5):36-38. (In Russ.) https://doi.org/10.25557/2073-7998.2025.05.36-38
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