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The case of trismus-pseudocamptodactyly syndrome due to rare variant in MYH8 gene
https://doi.org/10.25557/2073-7998.2024.08.58-62
Abstract
Trismus-pseudocamptodactyly syndrome (TPS, distal arthrogryposis type 7) is a rare disease with autosomal dominant inheritance from the group of distal arthrogryposis. The most characteristic clinical manifestations of TPS are trismus and limited extension in the interphalangeal joints of the hand during dorsiflexion of the wrist (pseudocamptodactyly). The cause of the disease is the pathogenic
variant c.2021G>A (p.Arg674Gln) in the MYH8 gene, which has been identified in all cases of the syndrome described in the scientific medical literature. This study presents a new case of TPS caused by the rare variant NM_002472.3 (MYH8): c.2020C>T (p.Arg674Trp, rs762523289).
About the Authors
A. A. Gusina
Republican Scientific and Practical Center “Mother and child”
Belarus
Belarus
Asya A. Gusina
66 Orlovskaya st., Minsk, 220053, Republic of Belarus
M. I. Kolybenko
Gomel Regional Diagnostic Medical and Genetic Center with consultation “Marriage and family”
Belarus
Belarus
Kolybenko M. I.
57 Kirova st., Gomel, 246022, Republic of Belarus
A. O. Kozorez
Republican Scientific and Practical Center “Mother and child”
Belarus
Belarus
Kozorez A. O.
66 Orlovskaya st., Minsk, 220053, Republic of Belarus
J. Z. Nikolayeva
Gomel Regional Diagnostic Medical and Genetic Center with consultation “Marriage and family”
Belarus
Belarus
Nikolayeva J. Z.
57 Kirova st., Gomel, 246022, Republic of Belarus
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Review
For citations:
Gusina A.A., Kolybenko M.I., Kozorez A.O., Nikolayeva J.Z. The case of trismus-pseudocamptodactyly syndrome due to rare variant in MYH8 gene. Medical Genetics. 2024;23(8):58-62. (In Russ.) https://doi.org/10.25557/2073-7998.2024.08.58-62
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