在产前诊断中发现两种导致不同表型的新型 MYH3 变异。
Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis.
机构信息
Prenatal Diagnosis Center, Hangzhou Maternity and Child Care Hospital, Hangzhou, Zhejiang, China.
Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
出版信息
Prenat Diagn. 2023 Oct;43(11):1467-1471. doi: 10.1002/pd.6440. Epub 2023 Sep 13.
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.
MYH3 基因编码胚胎肌球蛋白重链，对于骨骼和肌肉发育至关重要。MYH3 变体与远端关节挛缩症 2A 型（Freeman-Sheldon 综合征）、远端关节挛缩症 2B3 型（Sheldon-Hall 综合征）、CPSFS1A（挛缩、翼状胬肉和脊柱肋骨跗骨融合综合征 1A）和 CPSFS1B 相关，这些疾病具有一些共同的特征和临床表现的高度变异性。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（p.Gln1291Pro），在产前环境中表现出不同的表型。本研究扩展了 MYH3 变体的范围，并支持 MYH3 的特定结构域基因型-表型相关性。
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