Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia.

IF 1.9 Q2 CLINICAL NEUROLOGY

Tremor and Other Hyperkinetic Movements Pub Date : 2025-10-27 eCollection Date: 2025-01-01 DOI:10.5334/tohm.1079

Charlotte Mouraux, Claire Fouquet, Keith Durkin, Vinciane Dideberg, Saskia Bulk, David Aktan, Maria Artesi, Frédérique Depierreux

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Abstract

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.

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与关节挛缩和舌肌张力障碍相关的纯合子致病性MYH3变异。

简介：已知MYH3的杂合致病性变异是导致远端关节挛缩的原因。病例报告：我们报告了一个近亲家庭的四名儿童，他们有两种可能的致病性MYH3纯合变异，与复杂的运动障碍有关，特别是突出的舌肌张力障碍，以及骨骼异常。MYH3的两种变异（C . 3445g >A和C . 4760t >C）已经在先天性关节挛缩症患者中被描述过。使用长读全基因组测序没有发现其他显著的变异。讨论：我们已经扩展了myh3相关关节挛缩的表型，包括运动障碍，这可能迄今未被充分诊断。这篇文章扩展了MYH3相关关节挛缩症的表型，包括运动障碍，说明了一个四口之家的孩子表现出MYH3骨骼疾病和舌张力障碍。在四个兄弟姐妹中发现了两个纯合的可能致病变异，似乎是骨骼和神经表型的病因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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