Abstract：
The MYH3 gene encodes the embryonic myosin heavy chain, which is crucial for the skeletal and muscular development. The MYH3 variants are associated with distal arthrogryposis type 2A (Freeman-Sheldon syndrome), distal arthrogryposis type 2B3 (Sheldon-Hall syndrome), CPSFS1A (Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A) and CPSFS1B, which have some shared characteristics and great variability of clinical phenotypes. In this study, we report two novel MYH3 missense variants c.1024T>G (p.Phe342Val) and c.3872A>C (p.Gln1291Pro), demonstrating different phenotypes in the prenatal setting. This study expands the spectrum of MYH3 variants and supports the domain-specific genotype-phenotype correlation of MYH3.
摘要：
MYH3基因编码胚胎肌球蛋白重链，这对骨骼和肌肉发育至关重要。MYH3变异体与远端关节病2A型（Freeman-Sheldon综合征）相关，远端关节病2B3型（Sheldon-Hall综合征），CPSFS1A（挛缩，翼状突起,和脊椎后融合综合征1A)和CPSFS1B，具有一些共同的特征和临床表型的巨大变异性。在这项研究中,我们报告了两个新的MYH3错义变体c.1024T>G（p。Phe342Val）和c.3872A>C（第Gln1291Pro),在产前环境中展示不同的表型。这项研究扩展了MYH3变体的范围，并支持MYH3的结构域特异性基因型-表型相关性。
