Letters to the Editor
Vol. 35 No. 3 (2025)
https://doi.org/10.4081/ejtm.2025.13832

Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven

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Received: 18 March 2025
Published: 27 June 2025
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MYH3, scoliosis, genetic testing, Freeman-Sheldon syndrome, Sheldon Hall syndrome

Authors

Josef Finsterer
fifigs1@yahoo.de
https://orcid.org/0000-0003-2839-7305
Neurology Department, Neurology & Neurophysiology Center, Vienna, Austria.

Dear Editor,

 

We were interested to read the article by Maccarone et al. about a 15-year-old girl with scoliosis, growth retardation, facial dysmorphism and delayed puberty.1 Genetic testing revealed the heterozygous variant NM_002470.4(MYH3):c.326G>A (p.Arg109His) in MYH3. The patient benefited from a Lyon ARTbrace after refusing surgical correction of scoliosis.1 The study is noteworthy, but several points should be discussed. [...]

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Maccarone MC, Paramento M, Passarotto E, et al. A neurophysiological and genetic assessment of a case of rapidly progressive scoliosis. Eur J Transl Myol 2024;35:13249. DOI: https://doi.org/10.4081/ejtm.2024.13249

dbSNP. Short genetic variations. National Library of Medicine. Accessed 13.4.2025. Available from: https://www.ncbi.nlm.nih.gov/snp/rs773615398

ClinVAr. NM_002470.4(MYH3):c.326G>A (p.Arg109His). Last accessed 18th March 2025. Available from: https://www.ncbi.nlm.nih.gov/clinvar/variation/1321646/

Salati SA, Hussain M. Freeman-sheldon syndrome. APSP J Case Rep 2013;4:7.

Toydemir RM, Bamshad MJ. Sheldon-Hall syndrome. Orphanet J Rare Dis 2009;4:11. DOI: https://doi.org/10.1186/1750-1172-4-11

Mangaraj S, Choudhury AK, Singh M, et al. Spondylocarpotarsal synostosis syndrome. A rare case of short stature and congenital scoliosis. Clin Cases Miner Bone Metab 2017;14:258-61. DOI: https://doi.org/10.11138/ccmbm/2017.14.2.258

Zhao S, Zhang Y, Hallgrimsdottir S, et al. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders. NPJ Genom Med 2022;7:11. DOI: https://doi.org/10.1038/s41525-021-00273-x

Siwiec A, Domagalska-Szopa M, Kwiecień-Czerwieniec I, et al. Impact of idiopathic scoliosis on the cardiopulmonary capacity of adolescents. J Clin Med 2024;13:4414. DOI: https://doi.org/10.3390/jcm13154414

How to Cite



1.
Finsterer J. Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven. Eur J Transl Myol [Internet]. 2025 Jun. 27 [cited 2026 Apr. 28];35(3). Available from: https://www.pagepressjournals.org/bam/article/view/13832
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