Special clinical manifestations and genetic characteristics of schaaf–Yang syndrome in Russian patients
E. L. Dadali,
T. V. Markova,
F. M. Bostanova,
A. S. Kuchina,
L. A. Bessonova,
E. A. Melnik,
V. V. Zabnenkova,
O. P. Ryzhkova,
O. E. Agranovich https://doi.org/10.17650/2222-8721-2024-14-1-42-50
Abstract
A description of the clinical and genetic characteristics of four Russian patients with Schaaf–Yang syndrome, caused by previously described and newly identified nucleotide variants in MAGEL2 gene, is presented. It was shown that the most severe clinical manifestations were found in a patient with the new identified variant c.1828C>T (p.Gln610Ter), while in a patient with a new nucleotide variant c.1609C>T (p.Gln537Ter) the manifestations of the disease were moderate. Considering the significant similarity of the clinical manifestations of Schaaf–Yang syndrome with Prader–Willi syndrome, the criteria for their differential diagnosis are outlined, the use of which will help optimize the process of molecular genetic analysis aimed at finding the etiologic factor.
About the Authors
E. L. Dadali
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Elena Leonidovna Dadali
1 Moskvorechye St., Moscow 115522
T. V. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
F. M. Bostanova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
A. S. Kuchina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
L. A. Bessonova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
E. A. Melnik
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
V. V. Zabnenkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
O. P. Ryzhkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
O. E. Agranovich
H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery
Russian Federation
Russian Federation
64–68 Parkovaya St., Pushkin, Saint Petersburg 196603
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Review
For citations:
Dadali E.L., Markova T.V., Bostanova F.M., Kuchina A.S., Bessonova L.A., Melnik E.A., Zabnenkova V.V., Ryzhkova O.P., Agranovich O.E. Special clinical manifestations and genetic characteristics of schaaf–Yang syndrome in Russian patients. Neuromuscular Diseases. 2024;14(1):42-50. (In Russ.) https://doi.org/10.17650/2222-8721-2024-14-1-42-50
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