{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T13:01:10Z","timestamp":1761570070606,"version":"build-2065373602"},"reference-count":20,"publisher":"Ubiquity Press, Ltd.","license":[{"start":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T00:00:00Z","timestamp":1761523200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100002661","name":"Fonds De La Recherche Scientifique - FNRS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002661","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006673","name":"Fonds L\u00e9on Fredericq","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006673","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["TOHM"],"abstract":"<jats:p>Introduction: Heterozygous pathogenic variants in MYH3 are known to be responsible for distal arthrogryposis.\nCase report: We report a consanguineous family of four children with two likely pathogenic MYH3 homozygous variants associated with complex movement disorders, especially prominent lingual dystonia, along with skeletal abnormalities. The two variants in MYH3 (c.3445G&gt;A and c.4760T&gt;C) have already been described in patients with congenital arthrogryposis. No other significant variation was found using long-read whole genome sequencing.\nDiscussion: We have extended the phenotype of MYH3-associated arthrogryposis to include movement disorders, which may have been underdiagnosed to date.\nHighlights\nThis article extends the phenotype of MYH3-associated arthrogryposis to include movement disorders, illustrating a family of four children presenting MYH3 skeletal disorders and lingual dystonia. Two homozygous likely pathogenic variants have been identified in the four sibs and appear to be causative for both skeletal and neurological phenotypes.<\/jats:p>","DOI":"10.5334\/tohm.1079","type":"journal-article","created":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T11:45:59Z","timestamp":1761565559000},"page":"53","source":"Crossref","is-referenced-by-count":0,"title":["Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia"],"prefix":"10.5334","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9569-9229","authenticated-orcid":false,"given":"Charlotte","family":"Mouraux","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Fouquet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7475-6618","authenticated-orcid":false,"given":"Keith","family":"Durkin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9998-6687","authenticated-orcid":false,"given":"Vinciane","family":"Dideberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-3763-7964","authenticated-orcid":false,"given":"Saskia","family":"Bulk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-6948-9133","authenticated-orcid":false,"given":"David","family":"Aktan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-5003-6143","authenticated-orcid":false,"given":"Maria","family":"Artesi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7949-8611","authenticated-orcid":false,"given":"Fr\u00e9d\u00e9rique","family":"Depierreux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3285","published-online":{"date-parts":[[2025,10,27]]},"reference":[{"key":"key20251027114554_B1","unstructured":"Albanese A, Bhatia KP, Fung VSC, Hallett M, Jankovic J, Klein C, et al. 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Journal of Bone and Joint Surgery Inc.","year":"2009"},{"issue":"5","key":"key20251027114554_B8","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1016\/j.ajhg.2015.04.004","article-title":"Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3","volume":"96","year":"2015","journal-title":"Am J Hum Genet"},{"issue":"6","key":"key20251027114554_B9","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1016\/j.ajhg.2018.04.008","article-title":"Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3","volume":"102","year":"2018","journal-title":"Am J Hum Genet"},{"issue":"5","key":"key20251027114554_B10","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","year":"2015","journal-title":"Genetics in Medicine"},{"key":"key20251027114554_B11","unstructured":"Durkie M, Cassidy EJ, Berry I, Owens M, Turnbull C, Scott RH, et al. ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024. Royal Devon University Healthcare NHS Foundation Trust, Exeter, EX2 5DW 5 Division of Genetics and Epidemiology [Internet]. 2024 [cited 2024 Mar 20];12:15\u20137. Available from: http:\/\/gnomad.broadinstitute.org\/."},{"issue":"7993","key":"key20251027114554_B12","first-page":"92","article-title":"A genomic mutational constraint map using variation in 76,156 human genomes","volume":"625","year":"2023","journal-title":"Nature"},{"key":"key20251027114554_B13","doi-asserted-by":"crossref","unstructured":"Morali B, Miranda V, Raelson J, Grimard G, Glavas P, Audibert F, et al. Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis. Clin Genet [Internet]. 2024 Oct 1 [cited 2024 Dec 10];106(4):483\u20137. Available from: https:\/\/pubmed.ncbi.nlm.nih.gov\/38856159\/. 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