Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations

• DOI: 10.3389/fneur.2022.943324
• Publication Date: 2022-07-11T05:56:41Z
• Authors: Jia-Tong Li; Si-Qi Dong; Dong-Qing Zhu; Wen-Bo Yang; Ting Qian; Xiao-Ni Liu; Xiang-Jun Chen
• Keywords: Sanger sequencing; Genotype-phenotype distinction

Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) and Charcot-Marie-Tooth diseasetype 2O (CMT2O) are two kinds of hereditary neuromuscular diseases caused by DYNC1H1 mutations. In this study, we reported patients SMALED1 The genotype-phenotype correlations were further analyzed systematically reviewing previous relevant publications.Two patients' their parents' clinical data collected, detailed examinations performed. WES was then applied, which confirmed Sanger sequencing. PubMed, Web Science, CNKI, Wanfang Data searched, all publications that met the inclusion criteria carefully screened. Any individual patient without a description phenotypes excluded.The manifested delayed motor milestones muscle wasting both extremities. diagnosis as SMALED1. Genetic testing revealed heterozygous mutations c.1792C>T c.790C>G; latter is novel dominant mutation. Genotype-phenotype analysis variants in DYN1 region protein associated more severe phenotype, complicated symptoms, CNS involvement than DHC_N1 region.Our study potentially expanded knowledge phenotypic genetic spectrum correlation may reflect pathogenesis underlying dyneinopathy