PDF(Pubmed)
Abstract：
A disease associated with malfunction of the MYH3 gene is characterised by scoliosis, contractures of the V fingers, knees and elbows, dysplasia of the calf muscles, foot deformity and limb length asymmetry. The aim of this study was to identify the cause of musculoskeletal deformities in a three-generation Polish family by exome sequencing. The segregation of the newly described c.866A>C variant of the MYH3 gene in the family indicates an autosomal dominant model of inheritance. The detected MYH3 variant segregates the disease within the family. The presented results expand the MYH3 disease spectrum and emphasize the clinical diagnostic challenge in syndromes harbouring congenital spine defects and joint contractures.
摘要：
与MYH3基因功能障碍相关的疾病以脊柱侧凸为特征，V指的挛缩，膝盖和肘部,小腿肌肉发育不良，足畸形和肢体长度不对称。这项研究的目的是通过外显子组测序确定三代波兰家族中肌肉骨骼畸形的原因。该家族中新描述的MYH3基因的c.86A>C变体的分离表明遗传的常染色体显性遗传模型。检测到的MYH3变体在家族内隔离疾病。所提出的结果扩展了MYH3疾病谱，并强调了先天性脊柱缺损和关节挛缩综合征的临床诊断挑战。
