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Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia
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Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia
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Journal Article
Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia
2025
Overview
Introduction: Heterozygous pathogenic variants in MYH3 are known to be responsible for distal arthrogryposis. Case 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>A and c.4760T>C) have already been described in patients with congenital arthrogryposis. No other significant variation was found using long-read whole genome sequencing. Discussion: We have extended the phenotype of MYH3-associated arthrogryposis to include movement disorders, which may have been underdiagnosed to date. Highlights This 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.
Publisher
Ubiquity Press, Ltd
Subject
/ Arthrogryposis - physiopathology
/ Child
/ Female
/ Humans
/ Laboratory medicine & medical technology
/ Male
/ Myosin Heavy Chains - genetics
/ Médecine de laboratoire & technologie médicale
/ pediatric movement disorders
/ Pedigree
/ Sciences de la santé humaine
