Expanding the spectrum of clinical and genetic characteristics of distal arthrogryposis type 5 caused by heterozygous variants in the PIEZO2 gene
E. L. Dadali,
T. V. Markova,
E. A. Melnik,
S. S. Nikitin,
I. V. Sharkova,
O. V. Khalanskaya,
L. A. Bessonov,
E. A. Shestopalova,
O. P. Ryzhkova,
S. I. Trofimova,
O. E. Agranovich,
S. I. Kutsev https://doi.org/10.17650/2222-8721-2024-14-2-25-37
Abstract
Pathogenic heterozygous variants in the PIEZO2 gene cause distal arthrogryposis type 5 – a rare autosomal dominant disease, which is characterized by the development of congenital contractures, ophthalmoparesis, ptosis and restrictive respiratory disorders. We have presented clinical and genetic characteristics of seven Russian patients with distal arthrogryposis type 5 caused by previously described and newly identified nucleotide variants in the PIEZO2 gene. It was shown that the most severe clinical manifestations were found in patients with newly identified nucleotide variants c.8238G>A (p.Trp274Ter) and c.7095G>T (p.Trp2365Cys), while in patients with other previously described variants c.8181_8183delAGA (p.Glu2727del) and c.2134A>G (p.Met712Val) the clinical phenotype is more moderately expressed. The dynamics of phenotype formation were also noted. It has been shown that the disease progression may occur as the child grows and requires monitoring of this group of patients.
About the Authors
E. L. Dadali
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
T. V. Markova
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
Evgeniya Aleksandrovna Melnik
1 Moskvorechye St., Moscow 115522
S. S. Nikitin
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
I. V. Sharkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
O. V. Khalanskaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
L. A. Bessonov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
E. A. Shestopalova
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
S. I. Trofimova
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
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
S. I. Kutsev
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
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For citations:
Dadali E.L., Markova T.V., Melnik E.A., Nikitin S.S., Sharkova I.V., Khalanskaya O.V., Bessonov L.A., Shestopalova E.A., Ryzhkova O.P., Trofimova S.I., Agranovich O.E., Kutsev S.I. Expanding the spectrum of clinical and genetic characteristics of distal arthrogryposis type 5 caused by heterozygous variants in the PIEZO2 gene. Neuromuscular Diseases. 2024;14(2):25‑37. https://doi.org/10.17650/2222-8721-2024-14-2-25-37
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